Genomics England
GMS Panels
Panels
Genes and Entities

RNF113A

ring finger protein 113A
OMIM: 300951
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 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Trichothiodystrophy 5, nonphotosensitive, OMIM:300953