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| Intellectual disability v3.1564 | PITRM1 | Eleanor Williams Tag gene-checked tag was added to gene: PITRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1306 | PITRM1 | Ivone Leong Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.978 | PITRM1 |
Catherine Snow Source Expert Review Green was added to PITRM1. Source Expert Review was added to PITRM1. Added phenotypes Ataxia; Intellectual disability for gene: PITRM1 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability v2.584 | PITRM1 |
Konstantinos Varvagiannis gene: PITRM1 was added gene: PITRM1 was added to Intellectual disability. Sources: Literature 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 Intellectual disability; Ataxia Penetrance for gene: PITRM1 were set to Complete Review for gene: PITRM1 was set to GREEN gene: PITRM1 was marked as current diagnostic Added comment: Biallelic pathogenic variants in PITRM1 seem to be associated with a phenotype of DD/ID and spinocerebellar ataxia. 6 individuals from 3 unrelated families have been reported. PMID: 26697887 reports on 2 individuals from a consanguineous Norwegian family homozygous for a missense variant (NM_014889.2:c.548G> or p.Arg183Gln). PMID: 29764912 reports on 2 consanguineous Palestinian families each with 2 affected boys. All affected individuals for both families were homozygous for a further missense variant (p.Thr931Met). The boys from one Palestinian family appeared to be more severely affected - compared to the sibs from the other family with the same variant - due to a concurrent X-chromosome rearrangement. Pathogenicity is supported by extensive functional studies performed in both articles as well as an additional one (PMID: 29383861) on Arg183Gln. PITRM1 is included in gene panels for ID offered by (few) diagnostic laboratories. The gene is not associated with any phenotype in OMIM nor in G2P. As a result, PITRM1 can be considered for inclusion in the ID panel as green (or amber). Sources: Literature |
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