Activity
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5 actions
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 | RNF216 | Zornitza Stark Marked gene: RNF216 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 | RNF216 | Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 | RNF216 | Zornitza Stark Classified gene: RNF216 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 | RNF216 | Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.184 | RNF216 |
Zornitza Stark gene: RNF216 was added gene: RNF216 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. 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 |
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