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Childhood solid tumours v4.15 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic 606764; Familial GIST; Gastrointestinal stromal tumor, somatic, 606764 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Familial Gastrointestinal stromal tumour; Familial GIST
Childhood solid tumours v1.27 PDGFRA Ivone Leong commented on gene: PDGFRA: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Childhood solid tumours v1.26 PDGFRA Ivone Leong Source NHS GMS was added to PDGFRA.
Mode of inheritance for gene PDGFRA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Gastrointestinal stromal tumor, somatic 606764; Familial GIST for gene: PDGFRA
Childhood solid tumours v1.25 PDGFRA Ivone Leong Source Expert list was added to PDGFRA.
Source Expert Review Green was added to PDGFRA.
Mode of inheritance for gene PDGFRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Familial Gastrointestinal stromal tumour; Gastrointestinal stromal tumor, somatic, 606764 for gene: PDGFRA
Publications for gene PDGFRA were changed from to 17566086; 14699510; 25975287; 17087943
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.24 PDGFRA Ivone Leong reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17087943, 14699510, 25975287, 17566086; Phenotypes: ; Mode of inheritance: None
Childhood solid tumours v1.23 PDGFRA Lara Hawkes reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial GIST, Gastrointestinal stromal tumor, somatic 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours v1.22 PDGFRA Ivone Leong gene: PDGFRA was added
gene: PDGFRA was added to Tumour predisposition - childhood onset. Sources: Expert List
Mode of inheritance for gene: PDGFRA was set to