Activity
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12 actions
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| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke changed review comment from: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.; to: Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke Marked gene: KRT8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke Added comment: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke Phenotypes for gene: KRT8 were changed from Cirrhosis, cryptogenic, 215600 (3) to CIRRHOSIS, FAMILIAL, MIM #215600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.68 | KRT8 | Seb Lunke Publications for gene: KRT8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.67 | KRT8 | Seb Lunke Mode of inheritance for gene: KRT8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.66 | KRT8 | Seb Lunke Classified gene: KRT8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.66 | KRT8 | Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | KRT8 | Sarah Righetti reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KRT85 |
Zornitza Stark gene: KRT85 was added gene: KRT85 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KRT8 |
Zornitza Stark gene: KRT8 was added gene: KRT8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KRT8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic, 215600 (3) |
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