| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Gastrointestinal neuromuscular disease v0.17 | NRG1 |
Bryony Thompson changed review comment from: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. Sources: Expert list; to: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene (at least one de novo) and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. Sources: Expert list |
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| Gastrointestinal neuromuscular disease v0.17 | NRG1 | Bryony Thompson Marked gene: NRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.17 | NRG1 | Bryony Thompson Gene: nrg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.17 | NRG1 | Bryony Thompson Classified gene: NRG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.17 | NRG1 | Bryony Thompson Gene: nrg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.16 | NRG1 |
Bryony Thompson gene: NRG1 was added gene: NRG1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRG1 were set to 22574178; 21706185; 28190554 Phenotypes for gene: NRG1 were set to Hirschsprung disease Review for gene: NRG1 was set to AMBER Added comment: Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease. Sources: Expert list |
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