Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: CISD2

Red List (low evidence)

CISD2 (CDGSH iron sulfur domain 2)
EnsemblGeneIds (GRCh38): ENSG00000145354
EnsemblGeneIds (GRCh37): ENSG00000145354
OMIM: 611507, Gene2Phenotype
CISD2 is in 15 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

SNHL is a feature of this condition. The relative timing of symptom onset (DM, optic atrophy vs SNHL) appears variable, with at least one family reported where SNHL was the initial feature. Consider including as Green on this panel.
Created: 29 Jan 2020, 12:10 a.m. | Last Modified: 29 Jan 2020, 12:10 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 2, MIM# 604928

Publications

Variants in this GENE are reported as part of current diagnostic practice

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#604928:Wolfram syndrome 2[Sensorineural hearing loss, high frequency; Optic atrophy (may be asymptomatic in some patients)Optic neuropathy; Peptic ulcer disease (in some patients); Urinary tract dilatation (in some patients)Impaired renal function (in some patients); Depression (in some patients); Diabetes mellitus; Bleeding associated with peptic ulcer diseaseDefective platelet aggregation in response to ADP]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CISD2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory