Comment on list classification: New gene added by Zornitza Stark. As there is currently only 1 case, this gene has been given a Red rating.
Created: 6 Oct 2020, 2:49 p.m. | Last Modified: 6 Oct 2020, 2:49 p.m.
Panel Version: 1.28
Gene: ppm1f has been classified as Red List (Low Evidence).
gene: PPM1F was added gene: PPM1F was added to Cholestasis. Sources: Literature Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1F were set to 30250217; 30976738 Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation Review for gene: PPM1F was set to RED