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Palmoplantar keratodermas v2.6 | SLURP1 | Arina Puzriakova Tag Q2_22_MOI was removed from gene: SLURP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v2.6 | SLURP1 | Arina Puzriakova commented on gene: SLURP1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v2.5 | SLURP1 | Arina Puzriakova Mode of inheritance for gene SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v1.13 | SLURP1 |
Arina Puzriakova Tag Q2_21_MOI was removed from gene: SLURP1. Tag Q2_22_MOI tag was added to gene: SLURP1. |
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Palmoplantar keratodermas v1.13 | SLURP1 | Arina Puzriakova Tag Q2_21_MOI tag was added to gene: SLURP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v1.13 | SLURP1 | Arina Puzriakova reviewed gene: SLURP1: Rating: ; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, OMIM:248300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v1.13 | SLURP1 | Arina Puzriakova Phenotypes for gene: SLURP1 were changed from Mal de Meleda to Meleda disease, OMIM:248300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.5 | SLURP1 | Rebecca Foulger Source London North GLH was added to SLURP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.4 | SLURP1 | Rebecca Foulger reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.3 | SLURP1 |
Rebecca Foulger gene: SLURP1 was added gene: SLURP1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLURP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLURP1 were set to Mal de Meleda |