Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: CISD2

Green List (high evidence)

CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
604928

Publications

History Filter Activity

25 Jul 2016, Gel status: 4

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.

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CISD2 were set to 17846994;25056293

22 Jul 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CISD2 were set to 604928;Wolfram syndrome 2

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

CISD2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review

7 Jun 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

CISD2 was created by richardhywel