Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: CISD2EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Rating green by expert review. This gene is a "Both DD and IF" (developmental disorder and incidental disorder) gene for Wolfram syndrome (source: Gene2Phenotype).Created: 22 Jul 2016, 11:51 a.m.
Richard Scott (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
604928
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- 604928
- Wolfram syndrome 2
- OMIM
- 611507
- Clinvar variants
- Variants in CISD2
- Penetrance
- Complete
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CISD2 were set to 17846994;25056293
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CISD2 were set to 604928;Wolfram syndrome 2
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Richard Scott (Genomics England Curator)CISD2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
Created
Richard Scott (Genomics England Curator)CISD2 was created by richardhywel