Hereditary spastic paraplegia - childhood onset

Gene: KIDINS220

Green List (high evidence)

KIDINS220 (kinase D interacting substrate 220)
EnsemblGeneIds (GRCh38): ENSG00000134313
EnsemblGeneIds (GRCh37): ENSG00000134313
OMIM: 615759, Gene2Phenotype
KIDINS220 is in 8 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

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.

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

Arianna Tucci (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296
OMIM
615759
Clinvar variants
Variants in KIDINS220
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (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, 617296

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KIDINS220 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KIDINS220.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KIDINS220.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to KIDINS220.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 for gene: KIDINS220

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: onset in infancy

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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