Genomics England

ring finger protein 216

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset movement disorder R-numbers: R56 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840, Cerebellar ataxia and hypogonadotrophic hypogonadism
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Green in White matter disorders - adult onset R-numbers: R62 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840