Genomics England
GMS Panels
Panels
Genes and Entities

RNF216

ring finger protein 216
OMIM: 609948
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset dystonia, chorea or related movement disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
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 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840, cerebellar ataxia-hypogonadism syndrome, MONDO:0008935