Optic neuropathy
Gene: CISD2
CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. A phenotype is associated with CISD2 in OMIM and Gene2phenotype. Optic atrophy is a phenotype of Wolfram syndrome and there are >3 unrelated cases of different variants in this gene. Based on this evidence and the expert review it was decided that there is enough evidence to promote this gene to green.Created: 20 Mar 2019, 2:15 p.m.
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WOLFRAM SYNDROME 2, 604928
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- Phenotypes
-
- WOLFRAM SYNDROME 2, 604928
- OMIM
- 611507
- Clinvar variants
- Variants in CISD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Optic neuropathy
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
20 Mar 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cisd2 has been classified as Green List (High Evidence).
20 Mar 2019, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CISD2 were set to
19 Mar 2019, Gel status: 2
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CISD2 were changed from to WOLFRAM SYNDROME 2, 604928
19 Mar 2019, Gel status: 2
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CISD2 was added gene: CISD2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: CISD2 was set to