| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.17 | ABCA2 | Sangavi Sivagnanasundram Classified gene: ABCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.17 | ABCA2 | Sangavi Sivagnanasundram Gene: abca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.16 | ABCA2 | Sangavi Sivagnanasundram Classified gene: ABCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.16 | ABCA2 | Sangavi Sivagnanasundram Gene: abca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.15 | ABCA2 |
Sangavi Sivagnanasundram gene: ABCA2 was added gene: ABCA2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA2 were set to 38228874 Phenotypes for gene: ABCA2 were set to intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 Review for gene: ABCA2 was set to GREEN Added comment: Biallelic ABCA2 variants present with a neurological disorder characterised by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. 3 unrelated individuals reported with ataxia as a presenting feature. Sources: Literature |
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