Ataxia - paediatric
Gene: PITRM1
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: LiteratureCreated: 22 Mar 2020, 4:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Publications
Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert listCreated: 12 Feb 2020, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Gene: pitrm1 has been classified as Green List (High Evidence).
Gene: pitrm1 has been classified as Green List (High Evidence).
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