Childhood onset hereditary spastic paraplegia
Gene: KIDINS220

KIDINS220 (kinase D interacting substrate 220)
EnsemblGeneIds (GRCh38): ENSG00000134313
EnsemblGeneIds (GRCh37): ENSG00000134313
OMIM: 615759, Gene2Phenotype
KIDINS220 is in 10 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood onset. Four kindred all with de novo null mutations.
Created: 9 May 2019, 5:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 9 May 2019, 5:30 p.m.

Panel version: 1.74

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 28 Apr 2019, 5:14 p.m.

Panel version: 1.74

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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: 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

Created: 28 Apr 2019, 4:16 p.m.

Panel version: 1.6

Arianna Tucci (Genomics England Curator)

onset in infancy
Created: 14 Jan 2019, 5:08 p.m.

Created: 14 Jan 2019, 5:08 p.m.

Panel version: 0.62

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green
Other

Phenotypes

Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296

OMIM

615759

Clinvar variants

Variants in KIDINS220

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KIDINS220 were set to 27005418; 29667355

13 May 2019, Gel status: 4