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| Paediatric pseudo-obstruction syndrome v0.216 | EDN3 | Achchuthan Shanmugasundram reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.190 | EDN3 | Arina Puzriakova Classified gene: EDN3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.190 | EDN3 | Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence to rate this gene as Green. >3 unrelated cases of EDN3 variants causing Waardenburg syndrome, type 4 (WS4). Note that WS4 is diagnosed when WS2 is accompanied by Hirschsprung disease. Hirschsprung's disease also occurs in ~16% of patients with congenital central hypoventilation syndrome/CCHS, which is also caused by EDN3 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.190 | EDN3 | Arina Puzriakova Gene: edn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.189 | EDN3 | Arina Puzriakova commented on gene: EDN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.189 | EDN3 | Arina Puzriakova Tag monogenic-polygenic tag was added to gene: EDN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.189 | EDN3 | Arina Puzriakova Mode of inheritance for gene: EDN3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.188 | EDN3 | Arina Puzriakova Publications for gene: EDN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.187 | EDN3 | Arina Puzriakova Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | EDN3 | Eleanor Williams reviewed gene: EDN3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: monogenic syndrome with a variable predisposition to HSCR; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | EDN3 |
Eleanor Williams gene: EDN3 was added gene: EDN3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: EDN3 was set to |
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