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| Paediatric pseudo-obstruction syndrome v0.216 | TWNK | Achchuthan Shanmugasundram commented on gene: TWNK: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.163 | TWNK | Achchuthan Shanmugasundram Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Perrault syndrome 5, OMIM:616138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.162 | TWNK | Achchuthan Shanmugasundram Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.161 | TWNK | Achchuthan Shanmugasundram Publications for gene: TWNK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.160 | TWNK | Achchuthan Shanmugasundram reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245, Perrault syndrome 5, OMIM:616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | TWNK | Eleanor Williams reviewed gene: TWNK: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Feeding intolerance, irregular rhythm of respiration, hypoglycemia, lactic acidosis, liver cytolysis and neurological abnormalities.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | TWNK |
Eleanor Williams gene: TWNK was added gene: TWNK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TWNK was set to |
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