RNF216:Ensemblv90

ring finger protein 216
OMIM: 609948, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green RNF216 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Green RNF216 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Green RNF216 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Green RNF216 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RNF216 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.62 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green RNF216 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Amber RNF216 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.153 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green RNF216 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.391	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Green RNF216 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Green RNF216 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Green RNF216 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green RNF216 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Amber RNF216 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green RNF216 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840