| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.9 | ABCC9 | Bryony Thompson Marked gene: ABCC9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.9 | ABCC9 | Bryony Thompson Gene: abcc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.9 | ABCC9 | Bryony Thompson Classified gene: ABCC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.9 | ABCC9 | Bryony Thompson Gene: abcc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.8 | ABCC9 |
Bryony Thompson gene: ABCC9 was added gene: ABCC9 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC9 were set to 38217872 Phenotypes for gene: ABCC9 were set to intellectual disability and myopathy syndrome, MONDO:0859224 Review for gene: ABCC9 was set to GREEN Added comment: PMID 38217872 reports 9 individuals from 7 families with biallelic loss-of-function ABCC9 variants presenting with developmental delay, intellectual disability, spasticity, microcephaly, seizures, fatigability and muscle weakness. Spasticity was present in 7 of the 9 individuals. Sources: Literature |
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