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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. |
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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. |
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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 |
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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 |