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  2. Childhood onset hereditary spastic paraplegia
  3. ALK

Childhood onset hereditary spastic paraplegia

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Zornitza Stark, PMID:32989326 reported a large cohort study of cerebral palsy, where two patients were identified with monoallelic ALK variants and presented with spastic diplegia with mild tremor or spastic-dystonic diplegia. Hence, this gene can be rated amber with current evidence.
Created: 9 Jan 2024, 10:57 a.m. | Last Modified: 9 Jan 2024, 10:57 a.m.
Panel Version: 4.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic diplegia, MONDO:0001167

Created: 9 Jan 2024, 10:55 a.m.
Last Modified: 9 Jan 2024, 10:55 a.m.
Panel version: 4.31

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

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

Panel version: 2.19

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

9 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

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