Deafness_Isolated
Gene: PTPRQ

PTPRQ (protein tyrosine phosphatase, receptor type Q)
EnsemblGeneIds (GRCh38): ENSG00000139304
EnsemblGeneIds (GRCh37): ENSG00000139304
OMIM: 603317, Gene2Phenotype
PTPRQ is in 5 panels

2 reviews

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Additional heterozygous missense variants reported for dominant form of deafness.
Created: 10 Dec 2020, 1:37 a.m. | Last Modified: 10 Dec 2020, 1:37 a.m.

Panel Version: 1.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Deafness, autosomal dominant 73, MIM# 617663

Publications

33229591

Created: 10 Dec 2020, 1:37 a.m.
Last Modified: 10 Dec 2020, 1:37 a.m.
Panel version: 1.1

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: multiple families and functional data, DEFINITIVE by ClinGen.

Mono-allelic variants: two families reported, PMID: 29309402; 31655630, Amber.
Created: 2 Oct 2020, 10:39 a.m. | Last Modified: 2 Oct 2020, 10:39 a.m.

Panel Version: 0.551

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663

Publications

Created: 2 Oct 2020, 10:39 a.m.
Last Modified: 2 Oct 2020, 10:39 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.554

Details

Mode of Inheritance

BOTH monoallelic and 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 84A, MIM# 613391
Deafness, autosomal dominant 73, MIM# 617663

OMIM

603317

Clinvar variants

Variants in PTPRQ

Penetrance

None

Publications

Panels with this gene