| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.99 | NRCAM | Bryony Thompson Marked gene: NRCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.99 | NRCAM | Bryony Thompson Gene: nrcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.99 | NRCAM | Bryony Thompson Classified gene: NRCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.99 | NRCAM | Bryony Thompson Gene: nrcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.98 | NRCAM |
Bryony Thompson gene: NRCAM was added gene: NRCAM was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 36606341; 35108495 Disease associations for gene: NRCAM were set to neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MONDO:0859236 Review for gene: NRCAM was set to GREEN Added comment: PMID 35108495 reports 10 individuals from eight families with autosomal recessive loss‑of‑function variants in NRCAM causing a neurodevelopmental disorder characterised by developmental delay, hypotonia, spasticity and peripheral neuropathy; PMID 36606341 adds one further individual from a consanguineous family with a homozygous nonsense variant and motor‑predominant axonal polyneuropathy without CNS involvement. Sources: Literature |
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