Mitochondrial disease
Gene: CRATEnsemblGeneIds (GRCh38): ENSG00000095321
EnsemblGeneIds (GRCh37): ENSG00000095321
OMIM: 600184, Gene2Phenotype
CRAT is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: LiteratureCreated: 21 Apr 2020, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 8, MIM# 617917
- Leigh syndrome
- OMIM
- 600184
- Clinvar variants
- Variants in CRAT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crat has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crat has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CRAT was added gene: CRAT was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRAT were set to 29395073; 31448845 Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome Review for gene: CRAT was set to AMBER