Childhood solid tumours
Gene: ALKEnsemblGeneIds (GRCh38): ENSG00000171094
EnsemblGeneIds (GRCh37): ENSG00000171094
OMIM: 105590, Gene2Phenotype
ALK is in 4 panels
4 reviews
Ivone Leong (Genomics England Curator)
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
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial neuroblastoma
Ellen Thomas (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
Phenotypes sourced from the eligibility statement and OMIM.Created: 8 Jan 2016, 2:30 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- bilateral neuroblastoma
- {Neuroblastoma, susceptibility to, 3}
- Familial neuroblastoma
- OMIM
- 105590
- Clinvar variants
- Variants in ALK
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)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
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to ALK. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Ellen Thomas (Genomics England Curator)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
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ALK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ALK were set to bilateral neuroblastoma; {Neuroblastoma, susceptibility to, 3}
Added New Source
Ellen McDonagh (Genomics England Curator)ALK was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)ALK was created by ellenmcdonagh