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| Hereditary ataxia with onset in adulthood v2.156 | OPA1 | Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 to Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.129 | OPA1 | Louise Daugherty Mode of pathogenicity for gene: OPA1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.128 | OPA1 | Louise Daugherty Mode of inheritance for gene: OPA1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.127 | OPA1 | Louise Daugherty Classified gene: OPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.127 | OPA1 | Louise Daugherty Gene: opa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | OPA1 | Louise Daugherty Added phenotypes Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | OPA1 | Louise Daugherty reviewed gene: OPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | OPA1 | Tracy Lester reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250, Behr syndrome, 210000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | OPA1 | Louise Daugherty Source NHS GMS was added to OPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | OPA1 |
Louise Daugherty gene: OPA1 was added gene: OPA1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: OPA1 was set to |
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