PTPRQ

protein tyrosine phosphatase, receptor type Q
OMIM: 603317, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PTPRQ in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 84A, MIM# 613391 Deafness, autosomal dominant 73, MIM# 617663
Green PTPRQ in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	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
Red PTPRQ in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Green PTPRQ in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	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
Green PTPRQ in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Deafness, autosomal dominant 73, MIM# 617663 Deafness, autosomal recessive 84A, MIM# 613391 Tags deafness