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.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Maternal (confirmed) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Busquets 2000 - - Germline - 1 - - - DNA SSCA - - GA1 11015709-Fam1 II.1 PubMed: Busquets 2000, PubMed: Busquets 2000, PubMed: Campistol 1992, PubMed: Christensen 1997 This patient was first described by Campistol 1992 (Case report) and later again three times: Christensen 1997 (Fam 2), Busquets 2000:11015709-Fam1II.1, Busquets 2000:10960496-Pat 38; Family: two carrier siblings (a third sibling was lost by spontaneous abortion and found to be an affected girl); For pedigree see PubMed: Busquets 2000. M no Spain - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Maternal (confirmed) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Busquets 2000 - - Germline - 1 - - - DNA SSCA - - GA1 - PubMed: Busquets 2000, PubMed: Campistol 1992 affected sister of 11015709-Fam1II.1 F no Spain - 00y00m00d - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 unaffected carrier PubMed: Busquets 2000 - - Germline/De novo (untested) - 1 - - - DNA SSCA - - - - PubMed: Busquets 2000, PubMed: Campistol 1992 2nd chromosome is normal / unaffected carrier mother of 11015709-Fam1II.2 F ? Spain - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Maternal (confirmed) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - 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
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Maternal (confirmed) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - 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
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Busquets 2000, PubMed: Christensen 2004, PubMed: Schmiesing 2017 - - Germline/De novo (untested) - 1 - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000, PubMed: Christensen 2004, PubMed: Schmiesing 2017 - - no Portugal - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Bijarnia 2008 - - Germline/De novo (untested) - 1 - - - DNA ? - - GA1 - PubMed: Bijarnia 2008 diagnosed by newborn screening F ? (Australia) - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Bijarnia 2008,PubMed: Estrella 2014 - - Germline/De novo (untested) - 1 - - - DNA ? - - GA1 18683078-Case 2 PubMed: Bijarnia 2008,PubMed: Estrella 2014 This Patient is described by Estrella 2014 as well (24970580-GA1 Born 2000); Elevated glutarylcarnitine in newborn screening, but resample level below established cut-off --> diagnosis at birth missed M ? (Australia) - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Both (homozygous) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Treacy 2003 - - Germline/De novo (untested) - 1 - - - DNA SEQ - - GA1 - PubMed: Treacy 2003 - M no Ireland - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Parent #1 - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Christensen 1997 - - Germline - 1 - - - RNA RT-PCR, SEQ - - GA1 9266361-Fam.1, index case PubMed: Christensen 1997 This patient (and siblings) were previously described by Dorland 1990 (publication could not be found); Family: Two older affected brothers (9266361-Fam.1, 1st & 2nd older brother) F ? Netherlands - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Both (homozygous) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Couce Pico 2008 - - Germline/De novo (untested) - 1 - - - DNA SEQ - - GA1 - PubMed: Couce Pico 2008 - M ? (Spain) - - - - - 1 Katrin Hinderhofer
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Maternal (confirmed) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Christensen 1997, PubMed: Pineda 1998, PubMed: Busquets 2000 - - Germline - - - - - DNA ? - - GA1 9881681-Pat.1 PubMed: Christensen 1997, PubMed: Pineda 1998, PubMed: Busquets 2000 This patient was first described by Christensen 1997 (Fam3) and later again again by Busquets 2000 (Pat. 34); Family: one affected younger brother (9881681-Pat.2/ 10960496-Pat.35) M no Spain - - - - - 1 Svenja Wagner
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Maternal (confirmed) - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Christensen 1997, PubMed: Pineda 1998, PubMed: Busquets 2000 - - Germline - - - - - DNA ? - - GA1 9881681-Pat.2 PubMed: Christensen 1997, PubMed: Pineda 1998, PubMed: Busquets 2000 This patient was first described by Christensen 1997 (Fam 3) and later again by Busquets 2000 (Pat.35); Family: one affected older brother (9881681-Pat.1/ 10960496-Pat.34) M no Spain - - - - - 1 Svenja Wagner
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Both (homozygous) - pathogenic (recessive) g.13007063G>C g.12896249G>C c.716G>C - GCDH_000021 - PubMed: Couce 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Couce 2013 - F no (Spain) white - - - - 1 Svenja Wagner
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Viau 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Viau 2012 - F ? United States white - - - - 1 Svenja Wagner
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C c.716G>C - GCDH_000021 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 10960496-Pat.36 PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C c.716G>C - GCDH_000021 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 10960496-Pat.37 PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - 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
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Heringer 2010, PubMed: Boy 2017, PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 21031586-Case 1 (PID 43) PubMed: Heringer 2010, PubMed: Boy 2017, PubMed: Boy 2018 This patient is later described again by Boy 2017 (c3) and Boy 2018 (PID2); Increased glutarylcarnitine concentration in newborn screening but normal results for GA and 3-OH-GA (urine) in semiquantative analysis --> Diagnosis missed at birth and only confirmed 04m later by quantitative GC/MS analysis! F ? Germany Swiss - - - - 1 Isabelle Rinke
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Pokora 2018 - - Germline/De novo (untested) - - - - - ? SEQ-NG - - GA1 30570710-Pat1 PubMed: Pokora 2018 Diagnosed by newborn screening M no Poland - - - - - 1 Isabelle Rinke
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID56 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Mahfoud 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 17523120-Caso4 PubMed: Mahfoud 2007 - F no Venezuela - - - - - 1 Isabelle Rinke
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Parent #1 - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Christensen 1997 - - Germline - - - - - RNA SEQ - - GA1 9266361-Fam.1, 1st older brother PubMed: Christensen 1997 This patient (and siblings) were described earlier by Dorland 1990 (publication could not be found); Family: two affected siblings (9266361-Fam.1, index case & 2nd older brother) M ? Netherlands - - - - - 1 Isabelle Rinke
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Parent #1 - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Christensen 1997 - - Germline - - - - - RNA SEQ - - GA1 9266361-Fam.1, 2nd older brother PubMed: Christensen 1997 This patient (and siblings) were described earlier by Dorland 1990 (publication could not be found); Family: two affected siblings (9266361-Fam.1, index case & 1st older brother) M ? Netherlands - - - - - 1 Isabelle Rinke
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown ACMG pathogenic g.13007063G>C g.12896249G>C - - GCDH_000021 ACMG/ACGS: PS4_Moderate, PM3_Very Strong, PP4_Moderate, PP3, PS3 (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic g.13007063G>C g.12896249G>C GCDH(NM_000159.3):c.680G>C (p.R227P) - GCDH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 2/48 (alleles) - - - DNA PCR, SEQ dried blood spots - GA1 Pat21 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
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - association g.13007063G>C g.12896249G>C - - GCDH_000021 - PubMed: Sitta 2021 - - Germline/De novo (untested) - 2/48 - - - DNA PCR, SEQ dried blood spots - GA1 33064266-Patient 5 PubMed: Sitta 2021 - F - 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
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 ACMG criteria: PM1, PM2, PM5, PP5, BP4 PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 184 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 8 c.680G>C r.(?) p.(Arg227Pro) Unknown - pathogenic (recessive) g.13007063G>C g.12896249G>C - - GCDH_000021 ACMG criteria: PM1, PM2, PM5, PP5, BP4 PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 37020324-Patient number 55 PubMed: Schuurmans 2023 - M - Spain - - - - - 1 Sabrina Oeser
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