White matter disorders and cerebral calcification - narrow panel
Gene: ISCA2EnsemblGeneIds (GRCh38): ENSG00000165898
EnsemblGeneIds (GRCh37): ENSG00000165898
OMIM: 615317, Gene2Phenotype
ISCA2 is in 10 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370
- Tags
- OMIM
- 615317
- Clinvar variants
- Variants in ISCA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Intellectual disability
- Likely inborn error of metabolism
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Optic neuropathy
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: ISCA2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)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)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: isca2 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag founder-effect tag was added to gene: ISCA2. Tag Q2_21_rating tag was added to gene: ISCA2.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)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