Inherited white matter disorders
Gene: SDHAComment on publications: PMID: 24781757. 4 unrelated patients. 1/4 had leukodystrophy, 1/4 had cerebral atrophy and 1/4 had both leukodystrophy and cerebral atrophy. PMID: 22972948. 2 unrelated patients both had leukodystrophy.Created: 14 Jun 2021, 12:45 p.m. | Last Modified: 14 Jun 2021, 12:45 p.m.
Panel Version: 1.124
Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.Created: 14 Jun 2021, 12:44 p.m. | Last Modified: 14 Jun 2021, 12:44 p.m.
Panel Version: 1.122
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Biallelic variants cause mitochondrial disease, with leukodystrophy a documented feature.Created: 24 Jul 2018, 6:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, MIM#252011
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, MIM#252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Publications for gene: SDHA were set to 22972948
Gene: sdha has been classified as Green List (High Evidence).
Gene: sdha has been classified as Red List (Low Evidence).
Gene: sdha has been classified as Red List (Low Evidence).
SDHA was added to Inherited white matter disorders panel. Sources: Expert list
SDHA was created by Zornitza Stark