Mitochondrial disorders
Gene: CRAT
Comment on list classification: As reviewed by Zornitza Stark, there is one case each with NBIA and Leigh syndrome. Hence, this gene can be promoted to amber with current evidence.Created: 10 Jan 2024, 2:50 p.m. | Last Modified: 10 Jan 2024, 2:50 p.m.
Panel Version: 4.155
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, MONDO:0009723
Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.Created: 1 May 2020, 10:13 a.m. | Last Modified: 1 May 2020, 10:13 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Publications
Associated with phenotype in OMIM and not in Gen2Phen. At least 1 variants identified in one caseCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Neurodegeneration with brain iron accumulation 8 617917
Publications
Gene: crat has been classified as Amber List (Moderate Evidence).
Gene: crat has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CRAT were changed from ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, OMIM:MONDO:0009723 to ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, MONDO:0009723
Phenotypes for gene: CRAT were changed from ?Neurodegeneration with brain iron accumulation 8 617917 to ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, OMIM:MONDO:0009723
Publications for gene: CRAT were set to 29395073; 29903433; 31448845
Publications for gene: CRAT were set to 29903433; 29395073
Mode of inheritance for gene: CRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRAT were changed from to ?Neurodegeneration with brain iron accumulation 8 617917
Publications for gene: CRAT were set to
gene: CRAT was added gene: CRAT was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CRAT was set to