Genomics England
GMS Panels
Panels
Genes and Entities

RNF13

ring finger protein 13
OMIM: 609247
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical visual impairment, Failure to thrive, Seizures, Congenital microcephaly, Epileptic encephalopathy, early infantile, 73, Abnormal muscle tone, Feeding difficulties, Intellectual disability, Global developmental delay, Sensorineural hearing impairment
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
Cortical visual impairment, Epileptic encephalopathy, early infantile, 73, 618379, Failure to thrive, Seizures, Congenital microcephaly, Abnormal muscle tone, Feeding difficulties, Intellectual disability, Global developmental delay, Sensorineural hearing impairment