RNF113A:Ensemblv90

ring finger protein 113A
OMIM: 300951, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green RNF113A in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 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 1.3802	2 reviews	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 1.376	1 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 1.309 Component of the following Super Panels: Progressive Neurological Conditions	1 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 1.508	2 reviews	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 0.81	2 reviews	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 1.87	1 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 1.482	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953
Green RNF113A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive, MIM#300953
Green RNF113A in Growth failure Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Trichothiodystrophy 5, nonphotosensitive OMIM #300953