Hereditary spastic paraplegia - childhood onset

Gene: ALK

No list

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

1 review

Zornitza Stark (Australian Genomics)

I don't know

Variants in this gene are linked to susceptibility to neuroblastoma.

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: 4 Nov 2020, 3:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic-dystonic diplegia

Publications

Details

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

History Filter Activity

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ALK was added gene: ALK was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALK were set to 32989326 Phenotypes for gene: ALK were set to Spastic-dystonic diplegia Review for gene: ALK was set to AMBER