Full data view for gene GCDH

Variant classification: please note that where there are several records of the same variant, classification of that variant
may differ between records depending on the reporting publication or the submitter's opinion. For the curator’s opinion on
the classification, please view the SUMMARY record or the concluded functional effect (value in column Effect after the /).
Information The variants shown are described using the NM_000159.3 transcript reference sequence.

1602 entries on 17 pages. Showing entries 1 - 100.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Allele     
Classification method     
Clinical classification     
DNA change (genomic) (hg19)     
DNA change (hg38)     
Published as     
ISCN     
DB-ID     
Variant remarks     
Reference     
ClinVar ID     
dbSNP ID     
Origin     
Segregation     
Frequency     
Re-site     
VIP     
Methylation     
Template     
Technique     
Tissue     
Remarks     
Disease     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Panel size     
Owner     
+?/. _1_5_ c.-77_(334+225_?)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_12994984)_(13003217_?)del g.(?_12884170_(12892403_?)del microdeletion of the short arm (p) of chromosome 19 from position 12994984 to 13003217 (8233 b.p.) arr[GRCh37]19p13.2(12,994,984_13,003,217)x1 GCDH_000330 deletion of complete gene PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA arrayCGH, PCR, SEQ - - GA1 Pat26 PubMed: Kurkina 2020 - M ? Russia - - - - not reported 1 Sabrina Oeser
+/. _1_5_ c.-77_(334+225_?)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_12991506)_(13003217_?)del g.(?_12880692)_(12892403_?)del microdeletion of the short arm (p) of chromosome 19 from postition 12991506 to 13003217 (11711 b.p.) arr[GRCh37]19p13.2(12,991,506_13,003,217)x1 GCDH_000330 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA arrayCNV, PAGE, SEQ - - GA1 Pat6 PubMed: Kurkina 2020 - F ? Russia - - - - not reported 1 Sabrina Oeser
+/? 2 c.1A>G r.? p.? Unknown - pathogenic (recessive) g.13002119A>G g.12891305A>G - - GCDH_000197 - PubMed: Kölker 2007, PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 17622945-Pat.3 (Table 1) PubMed: Kölker 2007, PubMed: boy 2018 This patient is mentioned again by Boy 2018 (PID 79) (suppl. material); Diagnosed by neonatal screening F ? (Germany) - - - - - 1 Isabelle Rinke
+/? 2 c.1A>G r.? p.(Met1?) Unknown ACMG VUS g.13002119A>G g.12891305A>G - - GCDH_000197 ACMG/ACGS: PM3_Supporting, PP4, PVS1_Moderate, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.10A>T r.(?) p.(Arg4*) Unknown ACMG likely pathogenic g.13002128A>T g.12891314A>T - - GCDH_000275 ACMG/ACGS: PVS1,PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.10A>T r.(?) p.(Arg4*) Both (homozygous) - likely pathogenic (recessive) g.13002128A>T g.12891314A>T - - GCDH_000275 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 2/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 33064266-Patient 6 PubMed: Sitta 2021 - F yes Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+/+? 2 c.11del r.(?) p.(Arg4Lysfs*8) Unknown - pathogenic (recessive) g.13002129del g.12891315del - - GCDH_000106 - PubMed: Crombez 2008 - - Germline/De novo (untested) - 1 - - - DNA SEQ - - GA1 - PubMed: Crombez 2008 detected by newborn screening of her second born child F ? (United States) - - - - - 1 Katrin Hinderhofer
+/+? 2 c.11del r.(?) p.(Arg4Lysfs*8) Unknown ACMG likely pathogenic g.13002129del g.12891315del - - GCDH_000106 ACMG/ACGS: PVS1, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.79del r.(?) p.(Ala27Argfs*34) Unknown ACMG pathogenic g.13002197del g.12891383del c.79delG - GCDH_000276 ACMG/ACGS: PM3_Supporting, PVS1, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.79del r.(?) p.(Ala27Argfs*34) Unknown - pathogenic (recessive) g.13002197del g.12891383del c.79delG - GCDH_000276 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat19 PubMed: Kurkina 2020 - F ? Russia - - - - not reported 1 Sabrina Oeser
+/+ 2 c.90del r.(?) p.(Glu31Argfs*30) Unknown - pathogenic (recessive) g.13002208del g.12891394del c.89 or 90delC - GCDH_000194 - PubMed: Mushimoto 2011 - - Germline/De novo (untested) - - - - - DNA SEQ blood and skin - GA1 21176883-Case 15 PubMed: Mushimoto 2011 Brother of 21176883-Case 18 M no Japan Japanese - - - - 1 Isabelle Rinke
+/+ 2 c.90del r.(?) p.(Glu31Argfs*30) Unknown - pathogenic (recessive) g.13002208del g.12891394del - - GCDH_000194 - PubMed: Mushimoto 2011 - - Germline/De novo (untested) - - - - - DNA SEQ blood and skin - GA1 21176883-Case 18 PubMed: Mushimoto 2011 Sister of 21176883-Case 15 F no Japan Japanese - - - - 1 Isabelle Rinke
+/+ 2 c.90del r.(?) p.(Glu31Argfs*30) Unknown ACMG pathogenic g.13002208del g.12891394del - - GCDH_000194 ACMG/ACGS: PM3_Supporting, PP4, PVS1, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 2i c.91+5G>A r.spl? p.? Unknown ACMG pathogenic g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 ACMG/ACGS: PS1, PS4_Moderate, PM3, PP3, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 2i c.91+5G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 The effect of splice-site mutation was predicted by means of the Human Splicing Finder v.3.0. PubMed: Sitta 2021 - - Germline/De novo (untested) - 10/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat18 PubMed: Sitta 2021 - M yes - - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+?/+ 2i c.91+5G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 The effect of splice-site mutation was predicted by means of the Human Splicing Finder v.3.0. PubMed: Sitta 2021 - - Germline/De novo (untested) - 10/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat16 PubMed: Sitta 2021 - M no Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+?/+ 2i c.91+5G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 The effect of splice-site mutation was predicted by means of the Human Splicing Finder v.3.0. PubMed: Sitta 2021 - - Germline/De novo (untested) - 10/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat13 PubMed: Sitta 2021 neurological symptoms without a defined diagnosis in family F no Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+?/+ 2i c.91+5G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 The effect of splice-site mutation was predicted by means of the Human Splicing Finder v.3.0. PubMed: Sitta 2021 - - Germline/De novo (untested) - 10/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat12 PubMed: Sitta 2021 - F no Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+?/+ 2i c.91+5G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 The effect of splice-site mutation was predicted by means of the Human Splicing Finder v.3.0. PubMed: Sitta 2021 - - Germline/De novo (untested) - 10/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat10 PubMed: Sitta 2021 - M no Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+?/+ 2i c.91+5G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.13002214G>A g.12891400G>A IVS1+5G>A - GCDH_000277 The effect of splice-site mutation was predicted by means of the Human Splicing Finder v.3.0. PubMed: Sitta2021 - - Germline/De novo (untested) - 10/48 - - - DNA PCR, SEQ dried blood spots - GA1 33064266-Patient 1 PubMed: Sitta2021 - M yes Brazil - - - - Treatment: all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic g.13002214G>T g.12891400G>T IVS1+5G>T; "deletion to the last 26 bp of exon I" - GCDH_000151 - PubMed: Greenberg 1995 - - Unknown - - - - - RNA SEQ, SSCA - - GA1 - PubMed: Greenberg 1995 North American Indians living in Island Lake region of northern Manitoba ? ? - Ojibway - - - - 1 Svenja Wagner
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Funk 2005 - - Germline - - - - - RNA RT-PCR frozen brain tissue - GA1 15689364-Case1 PubMed: Funk 2005, PubMed: Haworth 1991 This patient is member of pedigree B described by Haworth 1991 but was born after publication in 1993; Six of his seven older siblings are also affected Autopsy was performed (see 'phenotype' and for more details full text); M ? Canada North American aboriginal (Ojibway-Cree) 00y08m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Greenberg 2002 - - Germline - - - - - ? PCRq dried blood spot allele-specific methylated multiplex real-time quantitative PCR GA1 11825066-Infant1 PubMed: Greenberg 2002 Diagnosed by targeted newborn screening; Begin of treatment at age 18d F ? Canada Canadian aboriginal population (Ojibway-Cree linguistic group, Manitoba & northwestern Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Greenberg 2002 - - Germline - - - - - ? PCRq dried blood spot allele-specific methylated multiplex real-time quantitative PCR GA1 11825066-Infant2 PubMed: Greenberg 2002 Diagnosed by targeted newborn screening; Begin of treatment at age 01d; Family: one affected sibling; In this patient antiepileptic therapy with topiramte did not only provide excellent seizure control but also significantly improved dystonia F ? Canada Canadian aboriginal population (Ojibway-Cree linguistic group, Manitoba & northwestern Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Greenberg 1995, PubMed: Funk 2005 - - Germline - - - - - ? PCRq dried blood spot allele-specific methylated multiplex real-time quantitative PCR GA1 11825066-Infant3 PubMed: Greenberg 2002, PubMed: Funk 2005 This patient is described later again by Funk 2005 (Case 4). For more information on autopsy see there; Diagnosed by targeted newborn screening; Begin of treatment at age 01m21d; Died unexpectedly at home (stopped breathing during febrile illness); Autopsy was performed (see 'phenotype') M ? Canada Canadian aboriginal population (Ojibway-Cree linguistic group, Manitoba & northwestern Ontario) 01y06m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Greenberg 2002 - - Germline - - - - - ? PCRq dried blood spot allele-specific methylated multiplex real-time quantitative PCR GA1 11825066-Infant4 PubMed: Greenberg 2002 Diagnosed by targeted newborn screening; Begin of treatment at age 01d; Family: two affected siblings F ? Canada Canadian aboriginal population (Ojibway-Cree linguistic group, Manitoba & northwestern Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.13 PubMed: Haworth 1991, PubMed: Greenberg 1995 For pedigree see full tex; Mutation at time unknown and later found by Greenberg M yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995, PubMed: Funk 2005 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.1 PubMed: Haworth 1991, PubMed: Greenberg 1995, PubMed: Funk 2005 This patient is the sister of No.2 (LOVD Indiv ID: 00218108) and the niece of No.3 (LOVD Indiv ID: 00218362); No.4 (LOVD Indiv ID: 00218363) is a more distant relative (for pedigree see full text); Mutation at time unknown and later found by Greenberg; This patient is dscribed later again by Funk 2005 (Case 5). For more information on autopsy see there. Died due to acute pneumonia. Autopsy was performed. F no Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) 07y07m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.2 PubMed: Haworth 1991, PubMed: Greenberg 1995 Prenatal diagnosis; This patient is the brother of No.1 (LOVD Indiv ID: 00218107) and the nephew of No.3 (LOVD Indiv ID: 00218362; No. 4 (LOVD Indiv ID: 00218363) is a more distant realtive (for pedigree see full text); Mutation at time unknown and later found by Greenberg M no Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.3 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is the uncle of No.1 (LOVD Indiv ID: 00218107) & No.2 (LOVD Indiv ID: 00218108) and the cousin of No.4 (LOVD Indiv ID: 00218363); For pedigree see full text; Mutation at time unknown and later found by Greenberg M no Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.4 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is the cousin of No.3 (LOVD Indiv ID: 00218362) and more distantly related to No.1 (LOVD Indiv ID: 00218107) & No.2 (LOVD Indiv ID: 00218108 (for pedigree see full text); Mutation at time unknown and later found by Greenberg F no Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.5 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is the brother of No 6 (LOVD Indiv ID: 00218365), No.7 (LOVD Indiv ID: 00218366), & No.8 (LOVD Indiv ID: 00218367) and the cousin of No.9 (LOVD Indiv ID: 00218368); A late brother who hadn't been born yet in 1991 is described by Funk 2005 (Case 1, LOVD Indiv ID: 00208884); For pedigree see full text; Mutation at time unknown and later found by Greenberg M yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.6 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is the sister of No.5 (LOVD Indiv ID: 00218364), No.7 (LOVD Indiv ID: 00218366) & No.8 (LOVD Indiv ID: 00218367) and the cousin of No.9 (LOVD Indiv ID: 00218368); A late brother who hadn't been born yet in 1991 is described by Funk 2005 (Case 1, LOVD Indiv ID: 00208884); For pedigree see full text; Mutation at time unknown and later found by Greenberg F yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.7 PubMed: Haworth 1991; PubMed: Greenberg 1995 Died due to purulent bronchitis and malnutrition; This patient was the sister of No.5 (LOVD Indiv ID: 00218364), No. 6 (LOVD Indiv ID: 00218365) & No.8 (LOVD Indiv ID: 00218367) and the cousin of No.9 (LOVD Indiv ID: 00218368); A late brother who hadn't been born yet in 1991 is described by Funk 2005 (Case 1, LOVD Indiv ID: 00208884); For pedigree see full text; Mutation at time unknown and later found by Greenberg; F yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) 00y09m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.8 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient was the sister of No.5 (LOVD Indiv ID: 00218364), No.6 (LOVD Indiv ID: 00218365) & No.7 (LOVD Indiv ID: 00218366) and the cousin of No.9 (LOVD Indiv ID: 00218368); A late brother who hadn't been born yet in 1991 is described by Funk 2005 (Case 1, LOVD Indiv ID: 00208884); For pedigree see full text; Mutation at time unknown and later found by Greenberg F yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) 01y05m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.9 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is the cousin of No.5 (LOVD Indiv ID: 00218364), No. 6 (LOVD Indiv ID: 00218365), No 7 (LOVD Indiv ID: 00218366), No.8 (LOVD Indiv ID: 00218367) and Funk 2005-Case1 (LOVD Indiv ID: 00208884); For pedigree see full text; Mutation at time unknown and later found by Greenberg F no Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.10 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is related to No.11 (LOVD Indiv ID: 00218370) & No. 12 (LOVD Indiv ID: 00218371); For pedigree see full text; Mutation at time unknown and later found by Greenberg M yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) - - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.11 PubMed: Haworth 1991, PubMed: Greenberg 1995 This patient is related to No.10 (LOVD Indiv ID: 00218369) & No. 12 (LOVD Indiv ID: 00218371); For pedigree see full text); Mutation at time unknown and later found by Greenberg F yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) 00y09m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995, PubMed: Funk 2005 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.12 PubMed: Haworth 1991, PubMed: Greenberg 1995, PubMed: Funk 2005 This patient is related to No.10 (LOVD Indiv ID: 00218369) & No.11 (LOVD Indiv ID: 00218370); For pedigree see full text; Mutation at time unknown and later found by Greenberg; This patient is described later again by Funk 2005 (Case 3). For more information on autopsy see there; Died suddenly during febrile illness. Autopsy was performed (see 'phenotype') M no Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group, Manitoba & northwest Ontario) 01y04m - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.(Trp23Glufs*11) Both (homozygous) - pathogenic (recessive) g.13002214G>T g.12891400G>T IVS1+5G>T - GCDH_000151 - PubMed: Haworth 1991, PubMed: Greenberg 1995, PubMed: Funk 2005 - - Germline - - - - - RNA PCR, SEQ, SSCA cultured fibroblasts - GA1 1986098-No.14 PubMed: Haworth 1991, PubMed: Greenberg 1995, PubMed: Funk 2005 For pedigree see full text. Three siblings died in infancy of pneumonia; Mutation at time unknown and later found by Greenberg; This patient was described again by Funk 2005 (Case 6). For more information on autopsy see there; Died during hospital stay. Autopsy was performed (see 'phenotype') M yes Canada Canadian aboriginal (Saulteaux/Ojibway Indian, Alonquian linguistic group) 40y - - - 1 Isabelle Rinke
+/+ 2i c.91+5G>T r.spl? p.? Unknown ACMG pathogenic g.13002214G>T g.12891400G>T - - GCDH_000151 ACMG/ACGS: PS4_Moderate, PM3_Supporting, PP4_Moderate, PVS1 (RNA), PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.109_110del r.(?) p.(Gln37Glufs*5) Unknown - pathogenic (recessive) g.13002318_13002319del g.12891504_12891505del c.106delCA and T36fs - GCDH_000239 - PubMed: Tsai 2017 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 28302372-Case6 PubMed: Tsai 2017 Diagnosed by newborn screening; Begin of treatment at age 01m with good compliance F ? Taiwan - - - - - 1 Isabelle Rinke
+/+ 3 c.109_110del r.(?) p.(Gln37Glufs*5) Unknown ACMG pathogenic g.13002318_13002319del g.12891504_12891505del - - GCDH_000239 ACMG/ACGS: PS4_Supporting, PM3_Supporting, PVS1, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.109_110del r.(?) p.(Gln37Glufs*5) Parent #1 - pathogenic (recessive) g.13002318_13002319del g.12891504_12891505del - - GCDH_000239 - PubMed: E 2021 - - Germline - - - - - DNA PCR, SEQ peripheral blood - GA1 34306040-No.6 PubMed: E 2021 - ? ? China - - - - (Boy et al., 2017b):(1)lys-free,tryp-reduced aminoacid supplement up to 6 y;(2)After 6y,low lys content natural protein diet avoiding lys-rich foods;(3)Lifelong carnitine supplementation.Emergency treatment specialized nutritional products and medication. 1 Sabrina Oeser
+/? 3i c.127+1G>T r.spl? p.? Unknown ACMG VUS g.13002337G>T g.12891523G>T - - GCDH_000278 ACMG/ACGS: PM3_Supporting, PVS1_Moderate, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3i c.127+1G>T r.spl? p.? Unknown ACMG pathogenic (recessive) g.13002337G>T g.12891523G>T - - GCDH_000278 ACMG: PVS1,PM2, PM3, PP3, PP4 PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat27 PubMed: Kurkina 2020 - M ? Russia - - - - not reported 1 Sabrina Oeser
-?/. - c.127+20C>T r.(=) p.(=) Unknown - likely benign g.13002356C>T g.12891542C>T GCDH(NM_000159.4):c.127+20C>T - GCDH_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3i c.127+20C>T r.(=) p.(=) Unknown ACMG likely benign g.13002356C>T g.12891542C>T - - GCDH_000178 ACMG/ACGS: BP4, BP7, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.148T>C r.(?) p.(Trp50Arg) Unknown - pathogenic (recessive) g.13002665T>C g.12891851T>C - - GCDH_000158 - PubMed: Wang 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Wang 2013 - M no China - - - - - 1 Svenja Wagner
+/+? 4 c.148T>C r.(?) p.(Trp50Arg) Unknown - pathogenic (recessive) g.13002665T>C g.12891851T>C - - GCDH_000158 - PubMed: Wang 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 24332224-Pat.7 PubMed: Wang 2013 - F no China - - - - - 1 Svenja Wagner
+/+? 4 c.148T>C r.(?) p.(Trp50Arg) Unknown - pathogenic (recessive) g.13002665T>C g.12891851T>C - - GCDH_000158 - PubMed: Wang 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Wang 2013 - M no China - - - - - 1 Svenja Wagner
+/+? 4 c.148T>C r.(?) p.(Trp50Arg) Unknown - pathogenic (recessive) g.13002665T>C g.12891851T>C - - GCDH_000158 - PubMed: Chen 2011 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 21811973-Pat4 PubMed: Chen 2011 - F ? China - - - - - 1 Isabelle Rinke
+/+? 4 c.148T>C r.(?) p.(Trp50Arg) Both (homozygous) - pathogenic (recessive) g.13002665T>C g.12891851T>C - - GCDH_000158 - PubMed: Chen et al. 2011 - - Germline - - - - - DNA SEQ blood - GA1 21811973-Pat7 PubMed: Chen 2011 - M ? China - - - - - 1 Isabelle Rinke
+/+? 4 c.148T>C r.(?) p.(Trp50Arg) Unknown ACMG likely pathogenic g.13002665T>C g.12891851T>C - - GCDH_000158 ACMG/ACGS: PS4_Moderate, PM3, PP3_Moderate, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.148T>G r.(?) p.(Trp50Gly) Both (homozygous) - pathogenic (recessive) g.13002665T>G g.12891851T>G - - GCDH_000247 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID38 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment M ? (Germany) - - - - - 1 Isabelle Rinke
+/? 4 c.148T>G r.(?) p.(Trp50Gly) Unknown ACMG VUS g.13002665T>G g.12891851T>G - - GCDH_000247 ACMG/ACGS: PM5, PP3_Moderate, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.150G>C r.(?) p.(Trp50Cys) Unknown - pathogenic (recessive) g.13002667G>C g.12891853G>C - - GCDH_000065 Geographic origin: Chile PubMed: Zschocke 2000 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.150G>C r.(?) p.(Trp50Cys) Unknown ACMG VUS g.13002667G>C g.12891853G>C - - GCDH_000065 ACMG/ACGS: PM5, PP3_Moderate, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.152dup r.(?) p.(Asp52Glyfs*13) Both (homozygous) - pathogenic g.13002669dup g.12891855dup c.152insA - GCDH_000211 - PubMed: Radha Rama Devi 2015 - - Germline - - - - - DNA SEQ - - GA1 26071121-Pat.3 PubMed: Radha Rama Devi 2015 - ? yes India - 01y06m - - - 1 Isabelle Rinke
+/+ 4 c.152dup r.(?) p.(Asp52Glyfs*13) Unknown ACMG pathogenic g.13002669dup g.12891855dup - - GCDH_000211 ACMG/ACGS: PVS1, PM2_Supporting, PM3_Supporting (November 2024) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.157C>T r.(?) p.(Pro53Ser) Unknown - pathogenic g.13002674C>T g.12891860C>T - - GCDH_000170 - PubMed: Viau 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Viau 2012 - M ? United States white - - - - 1 Svenja Wagner
+/? 4 c.157C>T r.(?) p.(Pro53Ser) Unknown ACMG VUS g.13002674C>T g.12891860C>T - - GCDH_000170 ACMG/ACGS: PM3_Supporting, PP4, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.158C>A r.(?) p.(Pro53Gln) Both (homozygous) - pathogenic (recessive) g.13002675C>A g.12891861C>A - - GCDH_000234 - PubMed: Mosaeilhy 2017 - - Germline/De novo (untested) - - - - - RNA SEQ blood - GA1 28389991-Pat18 PubMed: Mosaeilhy 2017 - F yes Egypt - - - - - 1 Isabelle Rinke
+/? 4 c.158C>A r.(?) p.(Pro53Gln) Unknown ACMG VUS g.13002675C>A g.12891861C>A - - GCDH_000234 ACMG/ACGS: PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.158C>G r.(?) p.(Pro53Arg) Unknown - VUS g.13002675C>G g.12891861C>G - - GCDH_000333 - PubMed: Wang 2019 - - Germline/De novo (untested) - 1/8 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
?/? 4 c.158C>G r.(?) p.(Pro53Arg) Unknown ACMG VUS g.13002675C>G g.12891861C>G - - GCDH_000333 ACMG/ACGS: PM2_Supporting (November 2024) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.158del r.(?) p.(Pro53Argfs*8) Unknown - pathogenic (recessive) g.13002675del g.12891861del 194delC - GCDH_000049 - PubMed: Goodman 1998 - - Unknown - 1 - - - DNA SEQ - - GA1 - - - - - - - - - - - 1 Katrin Hinderhofer
+/+? 4 c.158del r.(?) p.(Pro53Argfs*8) Unknown ACMG likely pathogenic g.13002675del g.12891861del - - GCDH_000049 ACMG/ACGS: PVS1, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.161T>C r.(?) p.(Leu54Pro) Unknown ACMG VUS g.13002678T>C g.12891864T>C - - GCDH_000279 ACMG/ACGS: PM3_Supporting, PP3_Moderate, PS3_Supporting, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.161T>C r.(?) p.(Leu54Pro) Unknown ACMG likely pathogenic (recessive) g.13002678T>C g.12891864T>C - - GCDH_000279 ACMG: PM2, PM3, PP3, PP4 PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat29 PubMed: Kurkina 2020 - F ? Russia - - - - not reported 1 Sabrina Oeser
+?/+? 4 c.167T>G r.(?) p.(Leu56Arg) Unknown ACMG likely pathogenic g.13002684T>G g.12891870T>G - - GCDH_000280 ACMG/ACGS: PM3_Supporting, PP3_Strong, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.167T>G r.(?) p.(Leu56Arg) Unknown - likely pathogenic (recessive) g.13002684T>G g.12891870T>G - - GCDH_000280 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 1/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat15 PubMed: Sitta 2021 - F no Brazil - - - - all patients diagnosed in the authors laboratory were immediately submitted to the available treatment based on protein (lysine) restricted diets and L-carnitine supplementation 1 Sabrina Oeser
+?/? 4 c.169G>A r.(?) p.(Glu57Lys) Unknown - likely pathogenic (recessive) g.13002686G>A g.12891872G>A - - GCDH_000262 - - - - Unknown - - - - - DNA SEQ - - GA1 - - - - - Turkey - - - - - 1 Didem Yücel Yılmaz
+/? 4 c.169G>A r.(?) p.(Glu57Lys) Unknown ACMG VUS g.13002686G>A g.12891872G>A - - GCDH_000262 ACMG/ACGS: PS4_Supporting, PM3_Supporting, PP3, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.169G>A r.(?) p.(Glu57Lys) Unknown - pathogenic (recessive) g.13002686G>A g.12891872G>A - - GCDH_000262 - PubMed: Paria 2022 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 35662016-G11 PubMed: Paria 2022 - M no India - - - - supplementation with oral riboflavin, carnitine; lysine-restricted diet; Riboflavin was added to the therapy at the discretion of the treating physician 1 Sabrina Oeser
+/? 4 c.169G>A r.(?) p.(Glu57Lys) Unknown - pathogenic (recessive) g.13002686G>A g.12891872G>A - - GCDH_000262 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 43 PubMed: Gürbüz 2020 - F ? Turkey - - - - - 1 Sabrina Oeser
+/? - c.176A>C r.(?) p.(Gln59Pro) Both (homozygous) - pathogenic (recessive) g.13002693A>C g.12891879A>C Q59P - GCDH_000115 - PubMed: van der Watt 2010 - - Germline - 1 - - - DNA SEQ blood - GA1 20732827-Pat.13 PubMed: van der Watt - M yes South Africa Asian - - - - 1 Katrin Hinderhofer
+/? 4 c.176A>C r.(?) p.(Gln59Pro) Unknown ACMG VUS g.13002693A>C g.12891879A>C - - GCDH_000115 ACMG/ACGS: PM3_Supporting, PP4_Moderate, PP3, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.179T>C r.(?) p.(Leu60Pro) Unknown ACMG VUS g.13002696T>C g.12891882T>C - - GCDH_000281 ACMG/ACGS: PM3_Supporting, PP3_Moderate, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.179T>C r.(?) p.(Leu60Pro) Unknown - pathogenic (recessive) g.13002696T>C g.12891882T>C - - GCDH_000281 ACMG criteria PM1 PM2 PP3 BP4 PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 37020324-Patient number 22 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+? 4 c.192G>C r.(?) p.(Glu64Asp) Unknown - pathogenic (recessive) g.13002709G>C g.12891895G>C - - GCDH_000236 - PubMed: Schmiesing 2017 - - Unknown - - - - - ? ? - - GA1 28062662-Line12 (table 1) PubMed: Schmiesing 2017, PubMed: Christensen 2004 - ? ? - - - - - - 1 Isabelle Rinke
+/+? 4 c.192G>C r.(?) p.(Glu64Asp) Unknown ACMG likely pathogenic g.13002709G>C g.12891895G>C - - GCDH_000236 ACMG/ACGS: PS1, PP4, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Both (homozygous) - pathogenic (recessive) g.13002709G>T g.12891895G>T - - GCDH_000203 - PubMed: Georgiou 2014 - - Germline - - - - - DNA SEQ blood - GA1 24973495-Pat.1 PubMed: Georgiou 2014 This patient (being child #5/6) has five siblings; Child#2/6 : mental retardation, died at 04y06m; Child#4/6: ataxic cerebral palsy associated with speech delay, mental retardation and seizures, died at 05y06m; No DNA from siblings available, but GA-1 very likely M no Cyprus Greek Cypriot - - - - 1 Isabelle Rinke
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Maternal (confirmed) - pathogenic (recessive) g.13002709G>T g.12891895G>T - - GCDH_000203 - PubMed: Georgiou 2014 - - Germline - - - - - DNA SEQ blood - GA1 24973495-Pat.2 PubMed: Georgiou 2014 - M ? Cyprus Greek Cypriot - - - - 1 Isabelle Rinke
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Maternal (confirmed) - pathogenic (recessive) g.13002709G>T g.12891895G>T - - GCDH_000203 - PubMed: Georgiou 2014 - - Germline - - - - - DNA SEQ blood - GA1 24973495-Pat.4 PubMed: Georgiou 2014 - M ? Cyprus Greek Cypriot - - - - 1 Isabelle Rinke
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Both (homozygous) - pathogenic (recessive) g.13002709G>T g.12891895G>T - - GCDH_000203 - PubMed: Georgiou 2014 - - Germline - - - - - DNA SEQ blood - GA1 24973495-Pat.7 PubMed: Georgiou 2014 - M ? Cyprus Greek Cypriot - - - - 1 Isabelle Rinke
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Maternal (confirmed) - pathogenic (recessive) g.13002709G>T g.12891895G>T - - GCDH_000203 - PubMed: Georgiou 2014 - - Germline - - - - - DNA SEQ blood - GA1 24973495-Pat.10 PubMed: Georgiou 2014 Second cousin of 24973495-Pat.9 (mother of pat 9 and father of pat 10 are first cousins) F ? Cyprus Greek Cypriot - - - - 1 Isabelle Rinke
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Both (homozygous) - pathogenic (recessive) g.13002709G>T g.12891895G>T - - GCDH_000203 - PubMed: Pode-Shakked 2014 - - Germline/De novo (untested) - - - - - DNA SEQ blood - GA1 27896087-Case report PubMed: Pode-Shakked 2014 - M yes Israel Arab-Muslim - - - - 1 Isabelle Rinke
+/+ 4 c.192G>T r.(?) p.(Glu64Asp) Unknown ACMG pathogenic g.13002709G>T g.12891895G>T - - GCDH_000203 ACMG/ACGS: PS4_Moderate, PM3_Strong, PP4_Moderate, PS3_Supporting, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.212T>C r.(?) p.(Phe71Ser) Unknown - pathogenic (recessive) g.13002729T>C g.12891915T>C c.248T>C - GCDH_000082 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 10960496-Pat.41 PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+? 4 c.212T>C r.(?) p.(Phe71Ser) Unknown ACMG likely pathogenic g.13002729T>C g.12891915T>C - - GCDH_000082 ACMG/ACGS: PM3_Supporting, PP4, PS3, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.215G>T r.(?) p.(Arg72Leu) Unknown - pathogenic (recessive) g.13002732G>T g.12891918G>T - - GCDH_000188 - PubMed: Mushimoto 2011 - - Germline/De novo (untested) - - - - - DNA SEQ blood and skin - GA1 21176883-Case 3 PubMed: Mushimoto 2011 Diagnosed by newborn screening F no Japan Japanese - - - - 1 Isabelle Rinke
+/? 4 c.215G>T r.(?) p.(Arg72Leu) Unknown ACMG VUS g.13002732G>T g.12891918G>T - - GCDH_000188 ACMG/ACGS: PP4, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown - pathogenic (recessive) g.13002736del g.12891922del c.219delC - GCDH_000066 Geographic origin: Germany PubMed: Zschocke 2000 - - Germline/De novo (untested) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown - pathogenic g.13002736del g.12891922del c.219delC - GCDH_000066 - PubMed: Bähr 2002, PubMed: Boy 2017 - - Germline/De novo (untested) - - - - - DNA DGGE, SEQ blood - GA1 12473778-Case report PubMed: Bähr 2002, PubMed: Boy 2017 The same patient is later described again by Boy 2017 (p5); Adult-onset GA-1 F ? Germany - - - - - 1 Isabelle Rinke
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown ACMG pathogenic g.13002736del g.12891922del - - GCDH_000066 ACMG/ACGS: PS4_Moderate, PM3_Strong, PP4, PVS1, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown - pathogenic (recessive) g.13002736del g.12891922del c.219delC - GCDH_000066 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat50 PubMed: Kurkina 2020 - M - Russia - - - - not reported 1 Sabrina Oeser
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown - pathogenic (recessive) g.13002736del g.12891922del c.219delC - GCDH_000066 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat46 PubMed: Kurkina 2020 - M ? Russia - - - - Diet therapy 1 Sabrina Oeser
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown - pathogenic (recessive) g.13002736del g.12891922del c.219delC - GCDH_000066 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat24 PubMed: Kurkina 2020 - M ? Russia - - - - not reported 1 Sabrina Oeser
+/+ 4 c.219del r.(?) p.(Tyr74Thrfs*68) Unknown - pathogenic (recessive) g.13002736del g.12891922del c.219delC - GCDH_000066 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat10 PubMed: Kurkina 2020 - F ? Russia - - - - not reported 1 Sabrina Oeser
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