Genomics England
GMS Panels
Panels
Genes and Entities

CAPRIN1

cell cycle associated protein 1
OMIM: 601178
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782, Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636