Childhood onset hereditary spastic paraplegia
Gene: KIDINS220
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 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 statusCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296
onset in infancyCreated: 14 Jan 2019, 5:08 p.m.
Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Publications for gene: KIDINS220 were set to 27005418; 29667355
Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296
Publications for gene: KIDINS220 were set to
Source Yorkshire and North East GLH was added to KIDINS220.
Source NHS GMS was added to KIDINS220.
Source London North GLH was added to KIDINS220.
Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 for gene: KIDINS220
Arianna Tucci: onset in infancy
gene: KIDINS220 was added gene: KIDINS220 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296