| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.101 | NSRP1 | Bryony Thompson Marked gene: NSRP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.101 | NSRP1 | Bryony Thompson Gene: nsrp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.101 | NSRP1 | Bryony Thompson Classified gene: NSRP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.101 | NSRP1 | Bryony Thompson Gene: nsrp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.100 | NSRP1 |
Bryony Thompson gene: NSRP1 was added gene: NSRP1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670; 38808951 Disease associations for gene: NSRP1 were set to neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, MONDO:0859275 Review for gene: NSRP1 was set to GREEN Added comment: PMID 34385670 reports 6 individuals from 3 families with biallelic loss-of-function NSRP1 variants presenting with a severe neurodevelopmental disorder characterised by spastic cerebral palsy, epilepsy, microcephaly and developmental delay. PMID 38808951 adds another case. Sources: Literature |
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