Childhood solid tumours cancer susceptibility
Gene: ALKEnsemblGeneIds (GRCh38): ENSG00000171094
EnsemblGeneIds (GRCh37): ENSG00000171094
OMIM: 105590, Gene2Phenotype
ALK is in 4 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Loss of function variants should not be reported back in this gene for this panel (confirmed with Clare Turnbull).Created: 30 Jan 2018, 11:36 a.m.
Clare Turnbull (Queen Mary University London)
Kinase.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial neuroblastoma
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- 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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Kinase.
Set mode of pathogenicity
Ellen McDonagh (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
Added New Source
Ellen McDonagh (Genomics England Curator)ALK was added to Childhood solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)ALK was added to Childhood solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ALK was created by ellenmcdonagh