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.

18 entries on 1 page. Showing entries 1 - 18.
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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.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic g.13008647A>G g.12897833A>G GCDH(NM_000159.4):c.1213A>G (p.M405V) - GCDH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Korman 2007 - - Germline/De novo (untested) - - - - - DNA SEQ Blood - GA1 17188916-Pat12 PubMed: Korman 2007 - M ? Israel Jewish - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G c.1321A>G - GCDH_000012 - PubMed: Gallagher 2005, PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - RNA RT-PCR, SEQ - - GA1 16183314-Case report PubMed: Gallagher 2005, PubMed: Schillaci 2016 This Patient was also described by Schillaci 2016 (27397597-Pat.2); No newborn screening by tandem mass spectrometry at birth; One older brother (healthy) ? no United States Mexican - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.3 PubMed: Schillaci 2016 Sibling of 27397597-Pat.4; Patient first presented in ACMGG 2008 meeting ? ? United States African American - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.4 PubMed: Schillaci 2016 Sibling of 27397597-Pat.3 ? ? United States African American - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.5 PubMed: Schillaci 2016 Newborn screening for GA 1 was negative; Patient first presented in ACMGG 2008 meeting ? ? United States Phillipine - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.8 PubMed: Schillaci 2016 Patient first presented in ACMGG 2008 meeting ? ? (United States) - - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.9 PubMed: Schillaci 2016 - ? ? (United States) - - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? SEQ - - GA1 27397597-Pat.1 PubMed: Schillaci 2016 Diagnosis was missed twice: Firstly at birth because newborn screening didn't include C5DC at that time. Secondly at age 12m because of lacking reference range for plasma glutarylcarnitine in laboratory M ? United States African American - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.7 PubMed: Schillaci 2016 Patient first presented in ACMGG 2008 meeting ? ? (United States) - - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - ? ? - - GA1 27397597-Pat.6 PubMed: Schillaci 2016 Patient first presented in ACMGG 2008 meeting ? ? (United States) - - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Boy 2017, PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 28438223-c5 PubMed: Boy 2017, PubMed: Boy 2018 This patient is described later again by Boy 2018 (PID 90) (suppl. material); Diagnosis missed by newborn screening, diagnosed later by high risk screening (twin sister affected) Family: considering genotype and time of diagnosis, twin sister is Boy 2018_1 PID 89 (LOVD Indiv ID: 00222824) F ? Germany Mixed: German-Mauretanian - - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown ACMG pathogenic g.13008647A>G g.12897833A>G - - GCDH_000012 ACMG: PS4_Moderate, PM3_Very Strong, PP4, PM2_Supporting (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Parent #2 - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio26 PubMed: Zhu 2015 - F - Israel - - - - - 1 Johan den Dunnen
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 252 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Boy 2017, PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID89 PubMed: Boy 2018, PubMed: Boy 2017 Information included in suppl. material; Diagnosis missed by newborn screening; Didn't receive maintenance treatment, but did receive emergency treatment Family: considering genotype and age at diagnosis, this pat is probably the sister of PID90/Boy 2017, c5; Under this assumption, ethnic origin has been added here from Boy 2017 F ? (Germany) Mixed (German-Mauretanian) 03y03m15d - - - 1 Isabelle Rinke
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Spenger 2021 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 35076458-Case 3 PubMed: Spenger 2021 - F no Germany - - - - questionable if the recommended diet is followed and the prescribed carnitine is taken 1 Sabrina Oeser
+/+ 11 c.1213A>G r.(?) p.(Met405Val) Unknown - pathogenic (recessive) g.13008647A>G g.12897833A>G - - GCDH_000012 - PubMed: Spenger 2021 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 35076458-Case 2 PubMed: Spenger 2021 - M no Germany - - - - advised low-protein,almost vegetarian diet. questionable if the diet&carnitine supplementation is followed. 14 y:in regular school without learning difficulties&shows a discrete dystonic movement disorder without subjective limitations in daily activities 1 Sabrina Oeser
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