TRPV3

transient receptor potential cation channel subfamily V member 3
OMIM: 607066, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TRPV3 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Olmsted syndrome, 614594 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400
Red TRPV3 in Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Olmsted syndrome, 614594 superficial peeling of the skin
Red TRPV3 in Generalised pustular psoriasis Level 3: Autoimmune skin disorders Level 2: Dermatological disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Palmoplantar keratoderma, nonepidermolytic, focal 2 616400 AD 3 Olmsted syndrome 614594
Green TRPV3 in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400 Olmsted syndrome, OMIM:614594
Red TRPV3 in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes superficial peeling of the skin Olmsted syndrome, 614594
Green TRPV3 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Olmstedt syndrome
Amber TRPV3 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes OLMSTED SYNDROME
Green TRPV3 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes OLMSTED SYNDROME 614594