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| Ataxia - paediatric v0.285 | PITRM1 | Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.284 | PITRM1 | Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.51 | PITRM1 | Bryony Thompson Marked gene: PITRM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.51 | PITRM1 | Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.51 | PITRM1 | Bryony Thompson Classified gene: PITRM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.51 | PITRM1 | Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.50 | PITRM1 |
Bryony Thompson gene: PITRM1 was added gene: PITRM1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to 26697887; 29764912 Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis Review for gene: PITRM1 was set to GREEN Added comment: Three families with two unique variants and in vitro functional assays. Cases and mouse model have spinocerebellar ataxia as a prominent feature of the phenotype. No OMIM phenotype. Sources: Literature |
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