| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.93 | MTNAP1 | Bryony Thompson Marked gene: MTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.93 | MTNAP1 | Bryony Thompson Gene: mtnap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.93 | MTNAP1 | Bryony Thompson Classified gene: MTNAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.93 | MTNAP1 | Bryony Thompson Gene: mtnap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.92 | MTNAP1 |
Bryony Thompson gene: MTNAP1 was added gene: MTNAP1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: MTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTNAP1 were set to 41720819 Disease associations for gene: MTNAP1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: MTNAP1 was set to AMBER Added comment: PMID 41720819 reports three individuals from two unrelated families with biallelic loss-of-function MTNAP1 variants presenting with global developmental delay, progressive cerebral and cerebellar atrophy, spasticity, ataxia and seizures. Sources: Literature |
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