Genomics England
GMS Panels
Panels
Genes and Entities

KIDINS220

kinase D interacting substrate 220
OMIM: 615759
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly and arthrogryposis, OMIM:619501
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly and arthrogryposis, OMIM:619501
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296