Optic neuropathy

Gene: ISCA2

Green List (high evidence)

ISCA2 (iron-sulfur cluster assembly 2)
EnsemblGeneIds (GRCh38): ENSG00000165898
EnsemblGeneIds (GRCh37): ENSG00000165898
OMIM: 615317, Gene2Phenotype
ISCA2 is in 11 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There are >3 unrelated cases. Patients usually present with a triad of neurodevelopmental regression, nystagmus with optic atrophy, and diffuse white matter disease. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Created: 7 Jun 2021, 12:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370; optic atrophy, MONDO:0003608

Publications

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ISCA2.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ISCA2. Source NHS GMS was added to ISCA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: isca2 has been classified as Amber List (Moderate Evidence).

7 Jun 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ISCA2 was added gene: ISCA2 was added to Optic neuropathy. Sources: Literature Q2_21_rating tags were added to gene: ISCA2. Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243 Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370; optic atrophy, MONDO:0003608 Review for gene: ISCA2 was set to GREEN