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| Mackenzie's Mission_Reproductive Carrier Screening v0.38 | GALT | Seb Lunke Classified gene: GALT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.38 | GALT | Seb Lunke Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | GALT |
Sarah Righetti changed review comment from: Now included in all states for consistency. Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.; to: Not included on NBS in Victoria, included in all three states for consistency. Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | GALT | Sarah Righetti reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosaemia, MIM #230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.3 | GALT | Zornitza Stark Marked gene: GALT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.3 | GALT | Zornitza Stark Added comment: Comment when marking as ready: Only screened in Victoria as galactosaemia is not part of newborn screening. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.3 | GALT | Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.3 | GALT | Zornitza Stark Classified gene: GALT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.3 | GALT | Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosemia, 230400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | B4GALT7 |
Zornitza Stark gene: B4GALT7 was added gene: B4GALT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | B3GALT6 |
Zornitza Stark gene: B3GALT6 was added gene: B3GALT6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3) |
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