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  3. GIPC3
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Deafness_Isolated

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 affected individuals reported, supportive mouse model, rated as DEFINITIVE by ClinGen.
Created: 29 Sep 2020, 10:49 p.m. | Last Modified: 29 Sep 2020, 10:49 p.m.
Panel Version: 0.473

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 15, MIM# 601869

Publications

Created: 29 Sep 2020, 10:49 p.m.
Last Modified: 29 Sep 2020, 10:49 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.473

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 15, MIM# 601869
OMIM
608792
Clinvar variants
Variants in GIPC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gipc3 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GIPC3 were changed from to Deafness, autosomal recessive 15, MIM# 601869

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GIPC3 were set to

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GIPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GIPC3 was added gene: GIPC3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GIPC3 was set to Unknown