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| Hereditary Spastic Paraplegia - paediatric v0.106 | RAB3GAP2 | Zornitza Stark Marked gene: RAB3GAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.106 | RAB3GAP2 | Zornitza Stark Added comment: Comment when marking as ready: Syndromic spasticity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.106 | RAB3GAP2 | Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.106 | RAB3GAP2 | Zornitza Stark Classified gene: RAB3GAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.106 | RAB3GAP2 | Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.105 | RAB3GAP2 |
Elena Savva gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to PMID: 32376645 Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome 212720 Review for gene: RAB3GAP2 was set to GREEN Added comment: PMID: 32376645 - 1 patient with bilateral clinodactyly and syndactyly, normal MRI and learning difficulties. Review of previous reports notes 9 additional patients (4 families) with Marsolf syndrome, with postnatal microcephaly (5/9), congenital cataracts (7/9), limb spasticity (7/9) and optic nerve atrophy (2/9). Sources: Literature |
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