Aminoacidopathy
Gene: SUGCT
SUGCT (succinyl-CoA:glutarate-CoA transferase)
EnsemblGeneIds (GRCh38): ENSG00000175600
EnsemblGeneIds (GRCh37): ENSG00000175600
OMIM: 609187, Gene2Phenotype
SUGCT is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000175600
EnsemblGeneIds (GRCh37): ENSG00000175600
OMIM: 609187, Gene2Phenotype
SUGCT is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
There is uncertain clinical relevance for this gene-disease association - reports of different clinical phenotypes between affected individuals and potentially a benign condition. Variants have been reported in >3 unrelated affected probands however their clinical presentations vary.
Classified Moderate by Aminoacidopathy GCEP on 12/12/2022- https://search.clinicalgenome.org/CCID:006299
Sources: ClinGenCreated: 18 Jul 2024, 1:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glutaric acidemia type 3 MONDO:0009283
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- glutaric acidemia type 3 MONDO:0009283
- OMIM
- 609187
- Clinvar variants
- Variants in SUGCT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jul 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sugct has been classified as Amber List (Moderate Evidence).
18 Jul 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sugct has been classified as Amber List (Moderate Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SUGCT was added gene: SUGCT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUGCT were set to 18926513; 28766179; 29421601 Phenotypes for gene: SUGCT were set to glutaric acidemia type 3 MONDO:0009283 Review for gene: SUGCT was set to AMBER