| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.115 | MINPP1 | Bryony Thompson Marked gene: MINPP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.115 | MINPP1 | Bryony Thompson Gene: minpp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.115 | MINPP1 | Bryony Thompson Classified gene: MINPP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.115 | MINPP1 | Bryony Thompson Gene: minpp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.114 | MINPP1 |
Bryony Thompson gene: MINPP1 was added gene: MINPP1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MINPP1 were set to 40508022; 33257696; 33168985 Phenotypes for gene: MINPP1 were set to pontocerebellar hypoplasia, MONDO:0020135 Review for gene: MINPP1 was set to GREEN Added comment: PMID 33168985, PMID 33257696, and PMID 40508022 report a total of 18 individuals from 12 families with biallelic loss-of-function MINPP1 variants causing pontocerebellar hypoplasia, a severe neurodevelopmental disorder characterised by cerebellar and pontine hypoplasia, ataxia and profound developmental delay. Sources: Literature |
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