Sarcoma cancer susceptibility
Gene: NF1
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
Comment on list classification: Although NF1 is associated with GIST, it was agreed that the gene should not be included in this panel as it is expected that the referring clinician will be able to exclude Neurofibromatosis type 1 on clinical examination.Created: 8 Feb 2019, 11:44 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Causation is clear. Rhabdomyosarcomas are an uncommon complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis
gene: NF1 was added gene: NF1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200