Childhood onset hereditary spastic paraplegia
Gene: ALK
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
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: LiteratureCreated: 4 Nov 2020, 3:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic-dystonic diplegia
Publications
Gene: alk has been classified as Amber List (Moderate Evidence).
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