Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Paediatric pseudo-obstruction syndrome v1.3 | MYL9 | Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v1.3 | MYL9 | Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v1.3 | MYL9 | Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v1.2 | MYL9 | Arina Puzriakova reviewed gene: MYL9: Rating: ; Mode of pathogenicity: None; Publications: 29453416, 33031641, 32621347, 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v1.2 | MYL9 | Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MYL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v1.2 | MYL9 | Arina Puzriakova Publications for gene: MYL9 were set to 27481187; 31848803; 33031641; 33729000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.216 | MYL9 | Achchuthan Shanmugasundram commented on gene: MYL9: The rating of this gene has been updated to Amber and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.93 | MYL9 | Achchuthan Shanmugasundram Phenotypes for gene: MYL9 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.92 | MYL9 | Achchuthan Shanmugasundram Publications for gene: MYL9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.91 | MYL9 | Achchuthan Shanmugasundram Mode of inheritance for gene: MYL9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.90 | MYL9 | Achchuthan Shanmugasundram Classified gene: MYL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.90 | MYL9 | Achchuthan Shanmugasundram Gene: myl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.89 | MYL9 | Achchuthan Shanmugasundram reviewed gene: MYL9: Rating: AMBER; Mode of pathogenicity: None; Publications: 27481187, 31848803, 33031641, 33729000; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.2 | MYL9 | Eleanor Williams reviewed gene: MYL9: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Abnormal MYL9 leads to impaired intestinal smooth muscle contractility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.1 | MYL9 |
Eleanor Williams gene: MYL9 was added gene: MYL9 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: MYL9 was set to |