Deafness_IsolatedAndComplex
Gene: PTPRQ
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
Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
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
Gene: ptprq has been classified as Green List (High Evidence).
Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391
Publications for gene: PTPRQ were set to
Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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