Mitochondrial disorders

Gene: CRAT

I don't know

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

I don't know

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

• 29395073
• 31448845

Red List (low evidence)

Associated with phenotype in OMIM and not in Gen2Phen. At least 1 variants identified in one case

Created: 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

• 29903433
• 29395073