Gene: SYCE2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871

1998
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. 9266361

1997
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223

2017
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients. 28794906

2017
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492

2015
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054

2012
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Genetics, medicine, and the Plain people. 19630565

2009
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. 18926513

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 GeneticVariation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954

2008
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. 17478444

2007
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs121434369
rs121434369
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000