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  3. KIDINS220
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Cerebral Palsy

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

3 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

2 additonal individuals with mono-allelic frameshift deletions and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Created: 27 May 2024, 6:32 a.m. | Last Modified: 27 May 2024, 6:32 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 27 May 2024, 6:32 a.m.
Last Modified: 27 May 2024, 6:32 a.m.
Panel version: 1.193

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Phenotypic overlap with CP particularly for mono-allelic disease association.
Created: 27 Sep 2021, 4:49 a.m. | Last Modified: 27 Sep 2021, 4:49 a.m.
Panel Version: 0.157
Created: 27 Sep 2021, 4:49 a.m.
Last Modified: 27 Sep 2021, 4:49 a.m.
Panel version: 0.157

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established association with AD spastic paraplegia and AR ventriculomegaly and arthrogryposis - phenotypic overlap noted with CP.

Also reported in 2 siblings with atypical CP likely due to parental germline mosaicism (PMID 30542205)

Alternative gene names: ARMS
Sources: Expert list, Literature
Created: 27 Sep 2021, 4:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Ventriculomegaly and arthrogryposis - #619501

Publications

Created: 27 Sep 2021, 4:33 a.m.

Panel version: 0.156

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296
  • Ventriculomegaly and arthrogryposis - #619501
OMIM
615759
Clinvar variants
Variants in KIDINS220
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 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).

27 Sep 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).

27 Sep 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: KIDINS220 was added gene: KIDINS220 was added to Cerebral Palsy. Sources: Expert list,Literature Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIDINS220 were set to 30542205 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Ventriculomegaly and arthrogryposis - #619501 Review for gene: KIDINS220 was set to GREEN