Hereditary spastic paraplegia - adult onsetGene: KIDINS220
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
3 unrelated cases published, Hum Mol Genet. 2017 Oct 1;26(19):3792-3796. doi: 10.1093/hmg/ddx263.- consanguineous couple who experienced four pregnancy terminations due to repeated findings in the fetuses with enlarged cerebral ventricles and limb contractures, Exome sequencing in two of the aborted fetuses revealed a shared homozygous frameshift variant in exon 24 in KIDINS220. Sanger sequencing of the variant in available family members showed complete segregation with the affection status
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296
Publications for gene: KIDINS220 were set to
Source Yorkshire and North East GLH was added to KIDINS220.
Source Expert Review Green was added to KIDINS220. Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KIDINS220.
gene: KIDINS220 was added gene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIDINS220 was set to