Monogenic hearing loss

Gene: PDZD7

Green List (high evidence)

Mode of inheritance
Other

Phenotypes
#276901:{Retinal disease in Usher syndrome type IIA, modifier of}[Hearing loss, congenital, sensorineural, moderate-severeNormal vestibular response; Retinitis pigmentosa, progressive]; #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic[Hearing loss, congenital sensorineural, moderate-severe; Retinitis pigmentosa, progressive]

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Comment when marking as ready: Discussed internally and agreement that this should be green.

Created: 7 Mar 2016, 1:55 p.m.

Comment on list classification: For nonsyndromic congenital hearing.

Created: 7 Mar 2016, 1:54 p.m.

PMID: 26416264 (4 Iranian families) and PMID: 26849169 (2 probands) support the role of biallelic mutations in this gene as causative of autosomal recessive non-syndromic hearing loss (when Usher syndrome phenotypes are ruled out). Knockout mice have congenital profound deafness. Previous reports supported the role of PDZD7 mutations as modifiers of Usher Syndrome as mutations in other known genes were present/could be involved (digenic effect) PMID:19028668; 20440071.

Created: 4 Mar 2016, 3:14 p.m.

Comment when marking as ready: Expert review and OMIM confirmed

Created: 29 Jan 2016, 4:10 p.m.