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| Hereditary ataxia with onset in adulthood v1.206 | COG5 | Louise Daugherty Classified gene: COG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.206 | COG5 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.206 | COG5 | Louise Daugherty Gene: cog5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.205 | COG5 | Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external expert review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.205 | COG5 | Louise Daugherty Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | COG5 | Louise Daugherty Added phenotypes Congenital disorder of glycosylation type 2i, 613612 for gene: COG5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | COG5 | Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | COG5 | Tracy Lester reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type 2i, 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | COG5 | Louise Daugherty Source NHS GMS was added to COG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | COG5 | Louise Daugherty Source Wessex and West Midlands GLH was added to COG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | COG5 |
Eleanor Williams gene: COG5 was added gene: COG5 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG5 were set to 28960046; 19690088 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type Iii 613612 |
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