Monogenic hearing loss
Gene: PDZD7
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]
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 confirmedCreated: 29 Jan 2016, 4:10 p.m.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PDZD7 were set to #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic; autosomal recessive nonsyndromic hearing loss
Publications for PDZD7 were set to PMID:19028668; 20440071; 26849169; 26416264
Mode of inheritance for PDZD7 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for PDZD7 was changed to Other - please specifiy in evaluation comments
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PDZD7 were set to #276901:{Retinal disease in Usher syndrome type IIA, modifier of}[Hearing loss, congenital, sensorineural, moderate-severe, Normal vestibular response, Retinitis pigmentosa, progressive]; #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic [Hearing loss, congenital sensorineural, moderate-severe, Retinitis pigmentosa, progressive]
Publications for PDZD7 were set to PMID:19028668; 20440071
Mode of inheritance for PDZD7 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert