Hereditary spastic paraplegia

Gene: KIDINS220

Green List (high evidence)

KIDINS220 (kinase D interacting substrate 220)
EnsemblGeneIds (GRCh38): ENSG00000134313
EnsemblGeneIds (GRCh37): ENSG00000134313
OMIM: 615759, Gene2Phenotype
KIDINS220 is in 7 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Three unrelated cases presenting with ID, spasticity and other variable features.
Created: 2 Jan 2018, 3:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296
OMIM
615759
Clinvar variants
Variants in KIDINS220
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jan 2018, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

KIDINS220 was added to Hereditary spastic paraplegia panel. Sources: Other

2 Jan 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

KIDINS220 was created by Helen Brittain