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| Cardiomyopathy_Paediatric v1.55 | TRIM37 | Sarah Milton Classified gene: TRIM37 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.55 | TRIM37 | Sarah Milton Gene: trim37 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.54 | TRIM37 | Sarah Milton edited their review of gene: TRIM37: Changed phenotypes: Mulibrey nanism, MIM#253250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.54 | TRIM37 |
Sarah Milton gene: TRIM37 was added gene: TRIM37 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM37 were set to 41702694; 38116000; 36742244 Phenotypes for gene: TRIM37 were set to mulibrey nanism, MONDO:0009664 Review for gene: TRIM37 was set to GREEN Added comment: Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset and characteristic facial features, along with occasional restrictive cardiomyopathy/restrictive pericarditis, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor. Numerous case reports with biallelic variants in the TRIM37 gene, which encodes a peroxisomal protein. Sources: Literature |
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