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Arthrogryposis

Gene: KIDINS220

Amber List (moderate evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model.
Created: 20 Mar 2021, 11:25 a.m. | Last Modified: 20 Mar 2021, 11:25 a.m.
Panel Version: 3.76
Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Created: 20 Mar 2021, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
brain ventriculomegaly and limb contractures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • brain ventriculomegaly and limb contractures
Tags
Q2_21_rating
OMIM
615759
Clinvar variants
Variants in KIDINS220
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: KIDINS220.

20 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kidins220 has been classified as Amber List (Moderate Evidence).

20 Mar 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: KIDINS220 was added gene: KIDINS220 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169 Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures Review for gene: KIDINS220 was set to GREEN