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  2. Dystonia - complex
  3. ALK
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Dystonia - complex

Gene: ALK

Amber List (moderate evidence)
ALK (ALK receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000171094
EnsemblGeneIds (GRCh37): ENSG00000171094
OMIM: 105590, Gene2Phenotype
ALK is in 7 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient
Sources: Literature
Created: 2 Nov 2020, 5:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic-dystonic diplegia

Publications

Created: 2 Nov 2020, 5:03 a.m.

Panel version: 0.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Spastic-dystonic diplegia
OMIM
105590
Clinvar variants
Variants in ALK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alk has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alk has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: ALK was added gene: ALK was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to PMID: 32989326 Phenotypes for gene: ALK were set to Spastic-dystonic diplegia Review for gene: ALK was set to AMBER