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Differences of Sex Development v0.297 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Differences of Sex Development v0.297 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Differences of Sex Development v0.297 RNF216 Zornitza Stark Classified gene: RNF216 as Green List (high evidence)
Differences of Sex Development v0.297 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Differences of Sex Development v0.296 RNF216 Zornitza Stark gene: RNF216 was added
gene: RNF216 was added to Differences of Sex Development. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 25841028; 23656588
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Review for gene: RNF216 was set to GREEN
Added comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females.
Sources: Expert list