Deafness_Isolated
Gene: PDZD7

PDZD7 (PDZ domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186862
EnsemblGeneIds (GRCh37): ENSG00000186862
OMIM: 612971, Gene2Phenotype
PDZD7 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, supportive functional data, including animal model. DEFINITIVE by ClinGen.
Created: 2 Oct 2020, 10:15 a.m. | Last Modified: 2 Oct 2020, 10:15 a.m.

Panel Version: 0.542

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 57, MIM# 618003

Publications

Created: 2 Oct 2020, 10:15 a.m.
Last Modified: 2 Oct 2020, 10:15 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.542

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 57, MIM# 618003

OMIM

612971

Clinvar variants

Variants in PDZD7

Penetrance

None

Publications

Panels with this gene