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| Gastrointestinal neuromuscular disease v0.25 | TMEM70 | Bryony Thompson edited their review of gene: TMEM70: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.25 | TMEM70 |
Bryony Thompson gene: TMEM70 was added gene: TMEM70 was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 21147908 Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Review for gene: TMEM70 was set to RED Added comment: Intestinal pseudo-obstruction reported in one case and delayed gastric emptying reported in another case. Gastrointestinal neuromuscular disease does not appear to be a prominent feature of the condition. Sources: NHS GMS |
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