| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare genetic inflammatory skin disorders v1.50 | KIT | Arina Puzriakova Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800 to Mastocytosis, cutaneous, OMIM:154800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.21 | KIT | Ivone Leong Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | KIT | Catherine Snow reviewed gene: KIT: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | KIT |
Catherine Snow Added phenotypes MASTOCYTOSIS, CUTANEOUS; MASTC for gene: KIT Publications for gene KIT were changed from to 9990072 |
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| Rare genetic inflammatory skin disorders v0.21 | KIT | Tom Cullup reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9990072; Phenotypes: MASTOCYTOSIS, CUTANEOUS, MASTC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | KIT | Rebecca Foulger Source London North GLH was added to KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | KIT | Rebecca Foulger reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | KIT |
Rebecca Foulger gene: KIT was added gene: KIT was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism |
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