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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Harting 2009 - - Germline/De novo (untested) - 1 - - - DNA ? - - GA1 - PubMed: Harting 2009 diagnosed by newborn screening M yes Turkey - - - - - 1 Katrin Hinderhofer
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Harting 2009, PubMed: Kölker 2001 - - Germline/De novo (untested) - 1 - - - DNA DGGE - - GA1 19433437-Pat.35 PubMed: Harting 2009, PubMed: Kölker 2001 This patient was first described by Kölker 2001 (case report). Diagnosed by selective screening due to macrocephaly; Family: three elder siblings (all healthy); Begin of dietary treatment at age 01m M no Turkey - 09y - - - 1 Katrin Hinderhofer
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Harting 2009, PubMed: Heringer 2010, PubMed: Boy 2018, PubMed: Boy 2018_2 - - Germline/De novo (untested) - 1 - - - DNA ? - - GA1 19433437-Pat.36 PubMed: Harting 2009, PubMed: Heringer 2010, PubMed: Boy 2018, PubMed: Boy 2018_2 This patient is also described by Heringer 2010 (21031586-Case 3 (PID 14)), Boy 2018 (PID 83) (suppl. material) and Boy 2018_2 (Pat 19); Diagnosed by high-risk newborn screening (One severely affected sibling died despite of early diagnosis); Received maintenance treatment, but didn't receive emergency treatment F ? Germany Turkish - - - - 1 Katrin Hinderhofer
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Paternal (confirmed) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Nyhan 1999 - - Germline - 1 - - - RNA RT-PCR - - GA1 10066389-Case1 PubMed: Nyhan 1999 Family: One affected younger brohter (case 2; LOVD Indiv ID:00001144); Begin of carnitine and riboflavin supplementation and protein reduced diet at age 06y F no (United States) white - - - - 1 Katrin Hinderhofer
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Paternal (confirmed) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Nyhan 1999 - - Germline - 1 - - - RNA RT-PCR - - GA1 10066389-Case2 PubMed: Nyhan 1999 Family: One affected older sister (case 1; LOVD Indiv ID:00001143 ); Begin of carnitine and riboflavin supplementation and protein reduced diet at age 01y05m M no (United States) white - - - - 1 Katrin Hinderhofer
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Unknown - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Badve 2015 - - Germline/De novo (untested) - - - - - ? ? - - GA1 25721963-Case report PubMed: Badve 2015 Late-onset GA 1; Additional disease: Bipolar disorder, 03m after begin of GA 1 treatment: Improved mood with reduced mood swings and reduced migraine episodes F ? Australia - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Boy 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 28438223-p6 PubMed: Boy 2017 Diagnosed by high risk screening (son affected); Genotype detected in four other family members F ? Germany Turkish - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID5 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance treatment but no emergency treatment M ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID9 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID17 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Didn't receive maintenance treatment but did receive emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID20 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Didn't receive maintenance treatment but did receive emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID25 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Naughten 2004 - - Germline/De novo (untested) - - - - - ? DGGE, SEQ - - GA1 15505400-No number (1) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten; Five more affected (and alive) relatives are not mentioned here because the clinical information given in the full text can't be connected to individuals (see full text) ? ? Ireland - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Naughten 2004 - - Germline/De novo (untested) - - - - - ? DGGE, SEQ - - GA1 15505400-No number (2) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten; Five more alive and affected relatives are not mentioned here because the clinical information given in the full text can't be connected to individuals (see full text) ? ? Ireland - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Naughten 2004 - - Germline/De novo (untested) - - - - - ? DGGE, SEQ - - GA1 15505400-No number (3) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten; Five more alive and affected relatives are not mentioned here because the clinical information given in the full text can't be connected to individuals (see full text) ? ? Ireland - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Naughten 2004 - - Germline/De novo (untested) - - - - - ? DGGE, SEQ - - GA1 15505400-No number (4) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten; Five more alive and affected relatives are not mentioned here because the clinical information given in the full text can't be connected to individuals (see full text) ? ? Ireland - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A - - GCDH_000147 - PubMed: Naughten 2004 - - Germline/De novo (untested) - - - - - ? DGGE, SEQ - - GA1 15505400-No number (5) PubMed: Naughten 2004 This patient is related to the other patients with the same genotype described by Naughten; Five more alive and affected relatives are not mentioned here because the clinical information given in the full text can't be connected to individuals (see full text) ? ? Ireland - - - - - 1 Isabelle Rinke
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Unknown ACMG pathogenic g.13008527G>A g.12897713G>A - - GCDH_000147 ACMG/ACGS: PS4_Moderate, PM3_Strong, PP4_Moderate, PP3_Moderate, PS3, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1093G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 29 PubMed: Gürbüz 2020 - M ? Turkey - - - - - 1 Sabrina Oeser
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 14 PubMed: Gürbüz 2020 father of 32777384-Case 11, 32777384-Case 12, 32777384-Case 13 M ? Turkey - - - - - 1 Sabrina Oeser
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 13 PubMed: Gürbüz 2020 brother of 32777384-Case 11 and 32777384-Case 12, cousin of 32777384-Case 9 and 32777384-Case 10 M ? Turkey - - - - - 1 Sabrina Oeser
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 12 PubMed: Gürbüz 2020 brother of 32777384-Case 11 and 32777384-Case 13, cousin of 32777384-Case 9 and 32777384-Case 10 M ? Turkey - - - - - 1 Sabrina Oeser
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 11 PubMed: Gürbüz 2020 brother of 32777384-Case 12 and 32777384-Case 13, cousin of 32777384-Case 9 and 32777384-Case 10 M ? Turkey - - - - - 1 Sabrina Oeser
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 10 PubMed: Gürbüz 2020 brother of 32777384-Case 9, cousin of 32777384-Case 11, 32777384-Case 12, 32777384-Case 13 M ? Turkey - - - - - 1 Sabrina Oeser
+/+ 11 c.1093G>A r.(?) p.(Glu365Lys) Both (homozygous) - pathogenic (recessive) g.13008527G>A g.12897713G>A c.1129G>A - GCDH_000147 - PubMed: Gürbüz 2020 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 32777384-Case 9 PubMed: Gürbüz 2020 sister of 32777384-Case 10, cousin of 32777384-Case 11, 32777384-Case 12, 32777384-Case 13 F ? Turkey - - - - - 1 Sabrina Oeser
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