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Intellectual disability syndromic and non-syndromic

Gene: CISD2

Red List (low 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)

Red List (low evidence)

Neurodegenerative disorder with hearing and visual impairment, but intellectual disability is not a feature.
Created: 27 Nov 2019, 3:03 a.m. | Last Modified: 27 Nov 2019, 3:03 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 2, MIM#604928

Details

History Filter Activity

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cisd2 has been classified as Red List (Low Evidence).

7 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Dec 2019, Gel status: 1

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

7 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cisd2 has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CISD2 was set to Unknown