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  3. CISD2
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Deafness_IsolatedAndComplex

Gene: CISD2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, mouse model.
Created: 31 Dec 2019, 12:09 a.m. | Last Modified: 31 Dec 2019, 12:09 a.m.
Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 2, MIM# 604928

Created: 31 Dec 2019, 12:09 a.m.
Last Modified: 31 Dec 2019, 12:09 a.m.
Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Wolfram syndrome 2, MIM# 604928
OMIM
611507
Clinvar variants
Variants in CISD2
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM# 604928 to Wolfram syndrome 2, MIM# 604928

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cisd2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM# 604928

31 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CISD2 was added gene: CISD2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CISD2 was set to Unknown