Optic Atrophy
Gene: CISD2

CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 11 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 19451219 - null mouse model shows optic nerve defects reminiscent of wolfram syndrome
PMID: 25056293 - 1 fam w/ hom intragenic deletion. Does NOT show optic atrophy, only optic neuropathy

PMID: 28335035 - 1 patient w/ homozygous missense and optic atrophy

PMID: 31391115 - 1 patient w/ homozygous frameshift and optic atrophy

PMID: 25371195 - 1 fam w/ homozygous splice variat and OA
Created: 9 Apr 2020, 4:56 a.m. | Last Modified: 9 Apr 2020, 4:56 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 2

Publications

Created: 9 Apr 2020, 4:56 a.m.
Last Modified: 9 Apr 2020, 4:56 a.m.
Panel version: 0.11

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Wolfram syndrome 2, MIM#604928

OMIM

611507

Clinvar variants

Variants in CISD2

Penetrance

None

Publications

Panels with this gene