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| Cholestasis v1.28 | PPM1F | Ivone Leong Classified gene: PPM1F as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.28 | PPM1F | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.28 | PPM1F | Ivone Leong Gene: ppm1f has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.3 | PPM1F |
Zornitza Stark 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 Added comment: One consanguineous family reported. Sources: Literature |
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