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Ichthyosis and erythrokeratoderma v2.12 TRPV3 Arina Puzriakova Tag Q2_21_rating was removed from gene: TRPV3.
Tag Q2_21_expert_review was removed from gene: TRPV3.
Ichthyosis and erythrokeratoderma v2.12 TRPV3 Arina Puzriakova commented on gene: TRPV3
Ichthyosis and erythrokeratoderma v1.73 TRPV3 Eleanor Williams commented on gene: TRPV3
Ichthyosis and erythrokeratoderma v1.73 TRPV3 Eleanor Williams Tag Q2_21_expert_review tag was added to gene: TRPV3.
Ichthyosis and erythrokeratoderma v1.60 TRPV3 Catherine Snow Tag Q2_21_NHS_review was removed from gene: TRPV3.
Ichthyosis and erythrokeratoderma v1.60 TRPV3 Catherine Snow Tag Q2_21_rating tag was added to gene: TRPV3.
Tag Q2_21_NHS_review tag was added to gene: TRPV3.
Ichthyosis and erythrokeratoderma v1.60 TRPV3 Catherine Snow reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
Ichthyosis and erythrokeratoderma v1.3 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.3 TRPV3 Ellen McDonagh gene: TRPV3 was added
gene: TRPV3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV3 were set to 25285920
Phenotypes for gene: TRPV3 were set to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594
Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments