Activity
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7 actions
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| Mackenzie's Mission_Reproductive Carrier Screening v0.82 | EDA | Seb Lunke Marked gene: EDA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.82 | EDA | Seb Lunke Gene: eda has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.82 | EDA | Seb Lunke Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.48 | EDA | Sarah Righetti reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EDA |
Zornitza Stark gene: EDA was added gene: EDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) |
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