RNF113A

ring finger protein 113A
OMIM: 300951, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green RNF113A in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	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 Expert Review Phenotypes Trichothiodystrophy 5, nonphotosensitive, MIM#300953
Green RNF113A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes ?Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Hair disorders Level 2: Dermatological disorders Version 0.71	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 Victorian Clinical Genetics Services Phenotypes Trichothiodystrophy 5, nonphotosensitive, 300953
Green RNF113A in Growth failure Version 1.76	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953