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Hearing loss

Gene: PDZD7

Green List (high evidence)

PDZD7 (PDZ domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186862
EnsemblGeneIds (GRCh37): ENSG00000186862
OMIM: 612971, Gene2Phenotype
PDZD7 is in 4 panels

4 reviews

Jun Shen (Harvard Medical School)

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]

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

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.

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:10 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic
  • autosomal recessive nonsyndromic hearing loss
OMIM
612971
Clinvar variants
Variants in PDZD7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Mar 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PDZD7 were set to #605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic; autosomal recessive nonsyndromic hearing loss

4 Mar 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDZD7 were set to PMID:19028668; 20440071; 26849169; 26416264

4 Mar 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PDZD7 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Mar 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PDZD7 was changed to Other - please specifiy in evaluation comments

2 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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]

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDZD7 were set to PMID:19028668; 20440071

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for PDZD7 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDZD7 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert