RNF113A

ring finger protein 113A
OMIM: 300951
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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