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| Familial Meniere Disease v1.1 | ADD1 |
Eleanor Williams changed review comment from: As noted by the expert reviewer Eldar Dedic, PMID: 30828346 - Gallego-Martinez, et al. (2019) reports a family in which two members have a rare variant of unknown signficance in ADD1 (chr4:2900221 A>G). In addition, two other rare variants in candidate genes are reported in 2 family members (KCNQ4) and in all cases within the famile (DPT). See Table 5, family 2. This adds some weight to ADD1 being associated with Familial Meniere disease, and so the watchlist tag has been added to this gene.; to: As noted by the expert reviewer Eldar Dedic, PMID: 30828346 - Gallego-Martinez, et al. (2019) reports a family in which two members have a rare missense variant of unknown signficance in ADD1 (chr4:2900221 A>G (grch37, rs372777117). In addition, two other rare variants in candidate genes are reported in 2 members of the same family (variant in KCNQ4) and in all cases within the family (variant in DPT). See Table 5, family 2. This adds some weight to ADD1 being associated with Familial Meniere disease, and so the watchlist tag has been added to this gene. |
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| Familial Meniere Disease v1.1 | ADD1 | Eleanor Williams reviewed gene: ADD1: Rating: ; Mode of pathogenicity: None; Publications: 30828346; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Meniere Disease v1.1 | ADD1 | Eleanor Williams Tag watchlist tag was added to gene: ADD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Meniere Disease v1.1 | ADD1 | Eldar Dedic reviewed gene: ADD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID:30828346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Meniere Disease | ADD1 | Eleanor Williams Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||