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  3. KIDINS220
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Hereditary Spastic Paraplegia - paediatric

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

KIDINS220 heterozygous truncating variants that affect the protein's C-terminus are associated with a phenotype reported in 4 individuals, which includes spastic paraplegia, intellectual disability, nystagmus, and obesity.

Note bi-allelic variants are associated with a distinct disorder which presents antenatally with arthrogryposis/hydrocephalus.
Created: 14 Mar 2021, 5:05 a.m. | Last Modified: 14 Mar 2021, 5:05 a.m.
Panel Version: 0.184

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007

Publications

Created: 14 Mar 2021, 5:05 a.m.
Last Modified: 14 Mar 2021, 5:05 a.m.
Panel version: 0.184

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296
  • MONDO:0015007
OMIM
615759
Clinvar variants
Variants in KIDINS220
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kidins220 has been classified as Green List (High Evidence).

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIDINS220 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KIDINS220 was added gene: KIDINS220 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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, autosomal dominant, 617296