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| Paediatric pseudo-obstruction syndrome v0.216 | POLG | Achchuthan Shanmugasundram commented on gene: POLG: 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 v0.104 | POLG | Achchuthan Shanmugasundram Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.103 | POLG | Achchuthan Shanmugasundram Publications for gene: POLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.102 | POLG | Achchuthan Shanmugasundram Mode of inheritance for gene: POLG was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.101 | POLG | Achchuthan Shanmugasundram Classified gene: POLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.101 | POLG | Achchuthan Shanmugasundram Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.100 | POLG | Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12825077, 19307547, 21993618, 23385875, 31848803; Phenotypes: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | POLG | Eleanor Williams reviewed gene: POLG: Rating: ; Mode of pathogenicity: ; Publications: 23385875, 31848803; Phenotypes: Associated with mitochondrial depletion and deletions. Severe hypotonia and generalized muscle weakness, severe abdominal distension and hypoactive bowel; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | POLG |
Eleanor Williams gene: POLG was added gene: POLG was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: POLG was set to |
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