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Deafness_IsolatedAndComplex

Gene: PTPRQ

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Further heterozygous variants reported in PMID 33229591.
Created: 10 Dec 2020, 2:10 a.m. | Last Modified: 10 Dec 2020, 2:10 a.m.
Panel Version: 1.33
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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

History Filter Activity

10 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630

2 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPRQ were changed from Deafness, autosomal recessive 84A, MIM# 613391 to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663

2 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391

2 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTPRQ were set to

2 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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