Genomics England

RNF216

ring finger protein 216

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840, Cerebellar ataxia and hypogonadotrophic hypogonadism
Green in Hypogonadotropic hypogonadism (GMS) R-numbers: R148 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840, cerebellar ataxia-hypogonadism syndrome, MONDO:0008935
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840