| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.63 | EIPR1 | Bryony Thompson Marked gene: EIPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.63 | EIPR1 | Bryony Thompson Gene: eipr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.63 | EIPR1 | Bryony Thompson Classified gene: EIPR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.63 | EIPR1 | Bryony Thompson Gene: eipr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.62 | EIPR1 |
Bryony Thompson gene: EIPR1 was added gene: EIPR1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: EIPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIPR1 were set to 41058046 Phenotypes for gene: EIPR1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: EIPR1 was set to GREEN Added comment: PMID 41058046 reports eight individuals from six families with homozygous missense EIPR1 variants presenting with a neurodevelopmental disorder characterised by global developmental delay, microcephaly, spasticity, ataxia, delayed myelination, callosal hypoplasia and cerebellar atrophy. Functional studies in cell lines, patient-derived iPSC neurons and zebrafish demonstrate loss‑of‑function of EIPR1. Sources: Literature |
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