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| Hereditary ataxia with onset in adulthood v1.171 | SMPD4 | Louise Daugherty edited their review of gene: SMPD4: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.166 | SMPD4 | Louise Daugherty edited their review of gene: SMPD4: Added comment: To clarify, this gene was uploaded by the GLH from a gene list submitted for R54. The gene SMPD4 is rated Amber on the following Rare Disease 100K PanelApp panels : Cerebellar hypoplasia, Arthrogryposis, Intellectual disabilit, due to work presented at ESHG 2018 by Pamela Magini: three unrelated families with ID, cerebellar hypoplasia, arthrogryposis. Still unpublished.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | SMPD4 | Louise Daugherty commented on gene: SMPD4: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.13 | SMPD4 | Louise Daugherty Source London North GMS was added to SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | SMPD4 | James Polke reviewed gene: SMPD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | SMPD4 | Louise Daugherty reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | SMPD4 | Tracy Lester reviewed gene: SMPD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unknown; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | SMPD4 | Louise Daugherty Source NHS GMS was added to SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | SMPD4 |
Louise Daugherty gene: SMPD4 was added gene: SMPD4 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SMPD4 was set to |
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