Miscellaneous Metabolic Disorders
Gene: SUGCTEnsemblGeneIds (GRCh38): ENSG00000175600
EnsemblGeneIds (GRCh37): ENSG00000175600
OMIM: 609187, Gene2Phenotype
SUGCT is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Likely benign conditionCreated: 8 Feb 2021, 12:29 a.m. | Last Modified: 8 Feb 2021, 12:29 a.m.
Panel Version: 0.300
At least 10 cases reported with glutaric aciduria 3. There is insufficient evidence to define any specific clinical phenotype as attributable to GA3. GA3 is a naturally occurring biochemical trait in mouse models.
Sources: LiteratureCreated: 8 Feb 2021, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric aciduria III MIM#231690; Organic acidurias
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Glutaric aciduria III MIM#231690
- Organic acidurias
- OMIM
- 609187
- Clinvar variants
- Variants in SUGCT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sugct has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sugct has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sugct has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SUGCT was added gene: SUGCT was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUGCT were set to 28766179; 18926513; 33483254; 32779420; 27604308 Phenotypes for gene: SUGCT were set to Glutaric aciduria III MIM#231690; Organic acidurias Review for gene: SUGCT was set to GREEN