Genomics England
GMS Panels
Panels
Genes and Entities

SNIP1

Smad nuclear interacting protein 1
OMIM: 608241
PanelMode of inheritanceDetails
2 panels
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
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501, psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501, psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787