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| Paediatric pseudo-obstruction syndrome v0.216 | MYLK | Achchuthan Shanmugasundram commented on gene: MYLK: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.97 | MYLK | Achchuthan Shanmugasundram Phenotypes for gene: MYLK were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.96 | MYLK | Achchuthan Shanmugasundram Publications for gene: MYLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.95 | MYLK | Achchuthan Shanmugasundram Mode of inheritance for gene: MYLK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.94 | MYLK | Achchuthan Shanmugasundram Classified gene: MYLK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.94 | MYLK | Achchuthan Shanmugasundram Gene: mylk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.93 | MYLK | Achchuthan Shanmugasundram reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28602422, 31848803, 33729000; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | MYLK | Eleanor Williams reviewed gene: MYLK: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal MYLK leads to impaired smooth muscle cell contraction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | MYLK |
Eleanor Williams gene: MYLK was added gene: MYLK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: MYLK was set to |
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