Childhood solid tumours
Gene: ALK
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial neuroblastoma
Comment on mode of pathogenicity: Likely only to be caused by specific gain-of-function mutations.Created: 14 Feb 2016, 5:56 p.m.
Comment on list classification: On prior testing; causes familial neuroblastoma with incomplete penetrance.Created: 14 Feb 2016, 5:55 p.m.
Phenotypes sourced from the eligibility statement and OMIM.Created: 8 Jan 2016, 2:30 p.m.
Source NHS GMS was added to ALK. Mode of inheritance for gene ALK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial neuroblastoma for gene: ALK Publications for gene ALK were changed from to 18724359
Source Expert List was added to ALK. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for ALK was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for ALK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for gene ALK were set to bilateral neuroblastoma; {Neuroblastoma, susceptibility to, 3}
ALK was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing
ALK was created by ellenmcdonagh