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Newborns main panel

Gene: ALK

Amber List (moderate evidence)
ALK (ALK receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000171094
EnsemblGeneIds (GRCh37): ENSG00000171094
OMIM: 105590, Gene2Phenotype
ALK is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:427 and PMID: 29098737 - mechanism of disease
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • ALK-related neuroblastic tumor susceptibility
OMIM
105590
Clinvar variants
Variants in ALK
Penetrance
None
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

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ALK. Added phenotypes ALK-related neuroblastic tumor susceptibility for gene: ALK Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ALK. Added phenotypes ALK-related neuroblastic tumor susceptibility for gene: ALK Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

gene: ALK was added gene: ALK was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ALK were set to ALK-related neuroblastic tumor susceptibility Mode of pathogenicity for gene: ALK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments