Neuroblastoma
Gene: ALKEnsemblGeneIds (GRCh38): ENSG00000171094
EnsemblGeneIds (GRCh37): ENSG00000171094
OMIM: 105590, Gene2Phenotype
ALK is in 7 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 2:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 3, MONDO:0013083; Neuroblastoma, susceptibility to, 3, MIM#613014
Publications
- PMID: 18724359
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Neuroblastoma, MONDO:0005072
- Neuroblastoma susceptibility to 3, MONDO:0013083
- Neuroblastoma, susceptibility to, 3, MIM#613014
- OMIM
- 105590
- Clinvar variants
- Variants in ALK
- Penetrance
- None
- Publications
-
- PMID: 18724359
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: alk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: ALK was added gene: ALK was added to Neuroblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to PMID: 18724359 Phenotypes for gene: ALK were set to Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 3, MONDO:0013083; Neuroblastoma, susceptibility to, 3, MIM#613014 Review for gene: ALK was set to GREEN