RNF113A

ring finger protein 113A
OMIM: 300951, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green RNF113A in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Other Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation
Red RNF113A in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation
Red RNF113A in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes X-LINKED TRICHOTHIODYSTROPHY Tags Skewed X-inactivation
Green RNF113A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation
Green RNF113A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.523 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation