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| Prepair 1000+ v1.3 | NDUFAF5 | Seb Lunke Added phenotypes Mitochondrial complex 1 deficiency, 252010 (3) for gene: NDUFAF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | GDF5 | Seb Lunke Added phenotypes Chondrodysplasia, Grebe type, 200700 (3) for gene: GDF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Marked gene: F5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Classified gene: F5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F5 | Zornitza Stark Tag for review was removed from gene: F5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F5 | Zornitza Stark reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.50 | F5 | Zornitza Stark Tag for review tag was added to gene: F5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.49 | F5 | Crystle Lee reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | NDUFAF5 |
Zornitza Stark gene: NDUFAF5 was added gene: NDUFAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3) |
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| Prepair 1000+ v0.0 | GDF5 |
Zornitza Stark gene: GDF5 was added gene: GDF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3) |
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| Prepair 1000+ v0.0 | F5 |
Zornitza Stark gene: F5 was added gene: F5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Factor V deficiency, 227400 (3) |
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| Prepair 1000+ v0.0 | DNAAF5 |
Zornitza Stark gene: DNAAF5 was added gene: DNAAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3) |
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| Prepair 1000+ v0.0 | C12orf57 |
Zornitza Stark gene: C12orf57 was added gene: C12orf57 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3) |
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