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Gastrointestinal neuromuscular disease v0.7 OPA1 Bryony Thompson Marked gene: OPA1 as ready
Gastrointestinal neuromuscular disease v0.7 OPA1 Bryony Thompson Gene: opa1 has been classified as Red List (Low Evidence).
Gastrointestinal neuromuscular disease v0.7 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPA1 were set to 30395865
Phenotypes for gene: OPA1 were set to gastrointestinal pseudo-obstruction
Review for gene: OPA1 was set to RED
Added comment: Cannot find evidence that gastrointestinal pseudo-obstruction or dysmotility have been reported in association with this gene. There is a single report of an OPA1 heterozygous variant in a case with suggestive MNGIE, but there were no obvious gastrointestinal features identified.
Sources: Expert list