| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.73 | GDAP2 | Bryony Thompson Marked gene: GDAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.73 | GDAP2 | Bryony Thompson Gene: gdap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.73 | GDAP2 | Bryony Thompson Classified gene: GDAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.73 | GDAP2 | Bryony Thompson Gene: gdap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.72 | GDAP2 |
Bryony Thompson gene: GDAP2 was added gene: GDAP2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDAP2 were set to 40469082; 32437512; 30084953 Phenotypes for gene: GDAP2 were set to spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706 Review for gene: GDAP2 was set to GREEN Added comment: PMID 32437512, PMID 30084953, and PMID 40469082 report a total of 4 individuals from 4 families with biallelic loss‑of‑function GDAD2 variants presenting with adult‑onset cerebellar ataxia, spasticity and cognitive impairment. Functional assays show reduced GDAP2 mRNA/protein in SH‑SY5Y cells (PMID 32437512) and motor deficits in Drosophila knock‑down models (PMID 30084953); no rescue experiments were performed. Sources: Literature |
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