Genomics England
GMS Panels
Panels
Genes and Entities

PUM1

pumilio RNA binding family member 1
OMIM: 607204
PanelMode of inheritanceDetails
4 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 7.54
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 47 617931
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, OMIM:620719
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 47, 617931
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 47 617931