White matter disorders and cerebral calcification - narrow panel
Gene: SDHA
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 14 Jun 2021, 12:44 p.m. | Last Modified: 14 Jun 2021, 12:44 p.m.
Panel Version: 1.178
Comment 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, 12:38 p.m. | Last Modified: 14 Jun 2021, 12:38 p.m.
Panel Version: 1.177
Biallelic variants cause mitochondrial disease, with leukodystrophy a documented feature.Created: 16 Sep 2020, 4:27 a.m. | Last Modified: 16 Sep 2020, 4:27 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, MIM#252011
Publications
Tag Q2_21_rating was removed from gene: SDHA.
Source NHS GMS was added to SDHA. Source Expert Review Green was added to SDHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: sdha has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SDHA.
Publications for gene: SDHA were set to 22972948
Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, OMIM:252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, MIM#252011 to Mitochondrial respiratory chain complex II deficiency, OMIM:252011
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: SDHA was added gene: SDHA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 22972948 Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011