Ataxia and cerebellar anomalies - narrow panelGene: PITRM1
Comment on list classification: There is sufficient evidence for PITRM1 to be classified as Green at the next GMS panel update. Three unrelated families including 2 consanguineous Palestinian families each with 2 affected boys (PMID: 29764912) and a consanguineous Norwegian family also with 2 affected sibs (PMID: 26697887). Phenotypes include ataxia although severity is variable. Supported by functional work and mouse model also exhibiting progressive ataxia.
Created: 15 Jun 2021, 3:35 p.m. | Last Modified: 15 Jun 2021, 3:35 p.m.
Panel Version: 2.193
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: Expert list
Created: 12 Sep 2020, 6:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ataxia; Intellectual disability
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating tag was added to gene: PITRM1.
Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
gene: PITRM1 was added gene: PITRM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861 Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability Review for gene: PITRM1 was set to GREEN gene: PITRM1 was marked as current diagnostic