Activity
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13 actions
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| Neurodegenerative disorders, adult onset v2.121 | RNF216 | Ivone Leong Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.101 | RNF216 | Louise Daugherty commented on gene: RNF216: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.100 | RNF216 | Louise Daugherty Source Wessex and West Midlands GLH was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.99 | RNF216 | Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.81 | RNF216 | Louise Daugherty Publications for gene RNF216 were changed from to 11932290; 23656588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.74 | RNF216 | Louise Daugherty commented on gene: RNF216: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.72 | RNF216 | Nick Beauchamp reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: 11932290, 23656588; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.67 | RNF216 | Louise Daugherty Source Yorkshire and North East GLH was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.11 | RNF216 | Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.10 | RNF216 | James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.9 | RNF216 | Louise Daugherty Source NHS GMS was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v1.8 | RNF216 | Louise Daugherty Source London North GLH was added to RNF216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegenerative disorders, adult onset v0.2 | RNF216 |
Rebecca Foulger gene: RNF216 was added gene: RNF216 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 |
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