| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.79 | GTPBP2 | Bryony Thompson Marked gene: GTPBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.79 | GTPBP2 | Bryony Thompson Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.79 | GTPBP2 | Bryony Thompson Classified gene: GTPBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.79 | GTPBP2 | Bryony Thompson Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.78 | GTPBP2 |
Bryony Thompson gene: GTPBP2 was added gene: GTPBP2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 38118446 Phenotypes for gene: GTPBP2 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: GTPBP2 was set to GREEN Added comment: PMID 38118446 reports individuals with biallelic loss-of-function variants in GTPBP2 presenting with congenital microcephaly, severe neurodevelopmental impairment, progressive spastic tetraparesis, ectodermal anomalies, refractory epilepsy and cerebral/cerebellar atrophy. Sources: Literature |
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