| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.71 | FLVCR1 | Bryony Thompson Marked gene: FLVCR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.71 | FLVCR1 | Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.71 | FLVCR1 | Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.71 | FLVCR1 | Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.70 | FLVCR1 |
Bryony Thompson gene: FLVCR1 was added gene: FLVCR1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 39306721; 34931442 Phenotypes for gene: FLVCR1 were set to Neurodevelopmental disorder, MONDO:0700092; Syndromic disease, MONDO:0002254; posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 Review for gene: FLVCR1 was set to GREEN Added comment: FLVCR1 biallelic loss-of-function variants are reported in families with a severe neurodevelopmental disorder (microcephaly, brain malformations, epilepsy, spasticity, early death) and in families with hereditary spastic paraplegia. Sources: Literature |
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