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| Inherited predisposition to GIST v1.5 | KIT | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Piebaldism (MIM# 172800); Mastocytosis, cutaneous (MIM# 154800); Mastocytosis, systemic, somatic (MIM# 154800); Germ cell tumors, somatic (MIM# 273300); Leukemia, acute myeloid, somatic (MIM# 601626) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v1.5 | KIT | Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.21 | KIT | Ivone Leong commented on gene: KIT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.13 | KIT | Ivone Leong Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.12 | KIT | Ivone Leong Mode of inheritance for gene: KIT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.4 | KIT | Ivone Leong Classified gene: KIT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.4 | KIT | Ivone Leong Gene: kit has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.3 | KIT | Rachel Robinson reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.3 | KIT | Lara Hawkes reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to GIST v0.2 | KIT |
Ivone Leong gene: KIT was added gene: KIT was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: KIT was set to |
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