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.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+/+ 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, 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.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.? 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 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
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