| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v0.93 | PAX6 | Zornitza Stark Marked gene: PAX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.93 | PAX6 | Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.93 | PAX6 | Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to Monogenic diabetes, MONDO:0015967, PAX6-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.92 | PAX6 | Zornitza Stark Publications for gene: PAX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.91 | PAX6 | Zornitza Stark Classified gene: PAX6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.91 | PAX6 | Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.90 | PAX6 | Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 36202929; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.52 | PAX6 |
Hali Van Niel changed review comment from: PAX6 well established gene disease association for Aniridia No evidence of association with monogenic diabetes PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population PMID: 11756345: one family with cosegregation of T2D and arnidia with PAX6 SNP; to: PAX6 well established gene disease association for Aniridia No evidence of association with monogenic diabetes PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population PMID: 11756345: one family with cosegregation of T2D and Aniridia with PAX6 SNP |
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| Monogenic Diabetes v0.52 | PAX6 | Hali Van Niel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 22153401, 11756345; Phenotypes: aniridia MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | PAX6 |
Zornitza Stark gene: PAX6 was added gene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Aniridia 106210; diabetes |
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