White matter disorders and cerebral calcification - narrow panel
Gene: ISCA2
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 phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene is also Green on the Inherited white matter disorders (Version 1.113) panel. This gene should be rated Green at the next review.Created: 7 Jun 2021, 12:52 p.m. | Last Modified: 7 Jun 2021, 12:52 p.m.
Panel Version: 1.154
Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord.Created: 15 Sep 2020, 10:04 p.m. | Last Modified: 15 Sep 2020, 10:04 p.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Publications
Tag Q2_21_rating was removed from gene: ISCA2.
Source NHS GMS was added to ISCA2. Source Expert Review Green was added to ISCA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: isca2 has been classified as Amber List (Moderate Evidence).
Tag founder-effect tag was added to gene: ISCA2. Tag Q2_21_rating tag was added to gene: ISCA2.
Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: ISCA2 was added gene: ISCA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 25558065; 22323289; 25539947; 27564080