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| Mendeliome v0.6166 | MYADML2 | Zornitza Stark Marked gene: MYADML2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6166 | MYADML2 | Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6166 | MYADML2 | Zornitza Stark Classified gene: MYADML2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6166 | MYADML2 | Zornitza Stark Gene: myadml2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6165 | MYADML2 | Zornitza Stark Tag SV/CNV tag was added to gene: MYADML2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6164 | MYADML2 |
Paul De Fazio gene: MYADML2 was added gene: MYADML2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MYADML2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYADML2 were set to 32778762 Phenotypes for gene: MYADML2 were set to Cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles Review for gene: MYADML2 was set to RED gene: MYADML2 was marked as current diagnostic Added comment: 5 sibs from a consanguineous family identified to have biallelic deletion encompassing part of the PYCR1 gene and the coding region of the MYADML2 gene. According to the authors: "All five affected sibs had the most common features of ARCL (autosomal recessive cutis laxa) but not many of the less common ones. We attributed the anomalies not typical for ARCL to MYADML2 deficit, because no other genetic defect possibly a candidate to underlie the skeletal phenotype was found." Phenotype may still be explained by the PYCR1 deletion alone. Sources: Literature |
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