Activity
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| Hereditary ataxia v1.342 | RAB3A | Sarah Leigh Classified gene: RAB3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.342 | RAB3A | Sarah Leigh Gene: rab3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.341 | RAB3A | Sarah Leigh edited their review of gene: RAB3A: Added comment: Hengel et al (PMID: 40166812) report six heterozygous RAB3A variants which appear to be associated with a condition that includes cerebellar ataxia; pyramidal features; neurodevelopmental delay. Five of the variants were only seen in one family each, while (NM_002866.5) c.247C>T (p.Arg83Trp) was seen in 14 members from nine families. The age of onset of phenotypic features ranged from 3 months to adulthood. The authors also present supportive functional studies.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.341 | RAB3A | Sarah Leigh Classified gene: RAB3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.341 | RAB3A | Sarah Leigh Gene: rab3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.340 | RAB3A | Sarah Leigh Added comment: Comment on phenotypes: RAB3A variants have not yet been associated with a phenotype in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.340 | RAB3A | Sarah Leigh Phenotypes for gene: RAB3A were changed from cerebellar ataxia; pyramidal features; neurodevelopmental delay to RAB3A associated cerebellar ataxia; pyramidal features; neurodevelopmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.339 | RAB3A | Sarah Leigh Publications for gene: RAB3A were set to PMID:36928819; 40166812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.338 | RAB3A |
Andrew Mumford changed review comment from: The association between monoallelic variants in RAB3A and cerebellar ataxia was discovered in large-scale gene association study (PMID 36928819). This was replicated in an extended European case series of 18 affected individuals from 10 families and supported by structural modelling and functional analyses in cell line and Drosophila models. (PMID 40166812). Sources: Research; to: The association between monoallelic variants in RAB3A and cerebellar ataxia was discovered in large-scale gene association study (PMID 36928819). This was replicated in an extended European case series of 18 affected individuals from 10 families and supported by structural modelling and functional analyses in cell line and Drosophila models. (PMID 40166812). Sources: Research |
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| Hereditary ataxia v1.338 | RAB3A |
Andrew Mumford gene: RAB3A was added gene: RAB3A was added to Hereditary ataxia. Sources: Research Mode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB3A were set to PMID:36928819; 40166812 Phenotypes for gene: RAB3A were set to cerebellar ataxia; pyramidal features; neurodevelopmental delay Penetrance for gene: RAB3A were set to Complete Review for gene: RAB3A was set to GREEN Added comment: The association between monoallelic variants in RAB3A and cerebellar ataxia was discovered in large-scale gene association study (PMID 36928819). This was replicated in an extended European case series of 18 affected individuals from 10 families and supported by structural modelling and functional analyses in cell line and Drosophila models. (PMID 40166812). Sources: Research |
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