Activity
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| Hypogonadotropic hypogonadism (GMS) v4.3 | RNF216 | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v4.3 | RNF216 | Arina Puzriakova reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v4.2 | RNF216 |
Arina Puzriakova Source Expert Review Green was added to RNF216. Source NHS GMS was added to RNF216. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypogonadotropic hypogonadism (GMS) v3.25 | RNF216 | Sarah Leigh Classified gene: RNF216 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.25 | RNF216 | Sarah Leigh Gene: rnf216 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.24 | RNF216 | Sarah Leigh Added comment: Comment on publications: PMID: 39444518 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.24 | RNF216 | Sarah Leigh Publications for gene: RNF216 were set to 39444518; 23656588; 25841028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.23 | RNF216 |
Sarah Leigh gene: RNF216 was added gene: RNF216 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Q1_25_ promote_green tags were added to gene: RNF216. Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF216 were set to 39444518; 23656588; 25841028 Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840; cerebellar ataxia-hypogonadism syndrome, MONDO:0008935 Review for gene: RNF216 was set to GREEN Added comment: RNF216 variants are associated with Cerebellar ataxia and hypogonadotropic hypogonadism (OMIM:212840). At least seven RNF216 variants have been reported in five unrelated cases of OMIM:212840 (PMID: 39444518; 23656588;25841028). Sources: Literature |
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