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Hearing loss

Gene: GIPC3

Green List (high evidence)

GIPC3 (GIPC PDZ domain containing family member 3)
EnsemblGeneIds (GRCh38): ENSG00000179855
EnsemblGeneIds (GRCh37): ENSG00000179855
OMIM: 608792, Gene2Phenotype
GIPC3 is in 2 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:46 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#601869:Deafness, autosomal recessive 15[Hearing loss, moderate to severe, bilateral, nonprogressive]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:25 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • #601869: Deafness, autosomal recessive 15
OMIM
608792
Clinvar variants
Variants in GIPC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GIPC3 were set to hearing loss; #601869: Deafness, autosomal recessive 15

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GIPC3 were set to PMID:11836571; 17690910; 21326233; 21660509; 9286457

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for GIPC3 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)

GIPC3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GIPC3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GIPC3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen