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Paediatric pseudo-obstruction syndrome v0.216 | ACTG2 | Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.13 | ACTG2 | Arina Puzriakova Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.12 | ACTG2 | Arina Puzriakova Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000; 31848803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.11 | ACTG2 | Arina Puzriakova Publications for gene: ACTG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.10 | ACTG2 | Arina Puzriakova Classified gene: ACTG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.10 | ACTG2 | Arina Puzriakova Gene: actg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.9 | ACTG2 | Arina Puzriakova Mode of inheritance for gene: ACTG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.8 | ACTG2 | Arina Puzriakova Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.7 | ACTG2 | Arina Puzriakova Phenotypes for gene: ACTG2 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.2 | ACTG2 | Eleanor Williams reviewed gene: ACTG2: Rating: ; Mode of pathogenicity: ; Publications: 33729000, 31848803; Phenotypes: Altered ACTG2 protein in the muscularis propria leads to impaired contractility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric pseudo-obstruction syndrome v0.1 | ACTG2 |
Eleanor Williams gene: ACTG2 was added gene: ACTG2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ACTG2 was set to |