| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.77 | GOT2 | Bryony Thompson Marked gene: GOT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.77 | GOT2 | Bryony Thompson Gene: got2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.77 | GOT2 | Bryony Thompson Classified gene: GOT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.77 | GOT2 | Bryony Thompson Gene: got2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.76 | GOT2 |
Bryony Thompson gene: GOT2 was added gene: GOT2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOT2 were set to 41001736 Phenotypes for gene: GOT2 were set to developmental and epileptic encephalopathy, 82, MONDO:0032880 Review for gene: GOT2 was set to GREEN Added comment: PMID 41001736 reports 16 individuals from 10 families with biallelic GOT2 variants causing a progressive neurodevelopmental disorder characterised by developmental and epileptic encephalopathy, severe intellectual disability, microcephaly and progressive spasticity. Patient fibroblasts show reduced GOT2 protein and impaired serine/glycine biosynthesis, which is rescued by pyruvate supplementation. Sources: Literature |
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