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| Prepair 1000+ v0.193 | OAT | Zornitza Stark Tag for review was removed from gene: OAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | OAT | Zornitza Stark Marked gene: OAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | OAT | Zornitza Stark Gene: oat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | OAT | Zornitza Stark Classified gene: OAT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | OAT | Zornitza Stark Gene: oat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | OAT | Zornitza Stark reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, MIM# 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.92 | OAT | Zornitza Stark Tag for review tag was added to gene: OAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | OAT |
Crystle Lee gene: OAT was added gene: OAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 33463379; 34340878 Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870) Review for gene: OAT was set to AMBER Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present. There is evidence of intra-familial variability. Sources: Literature |
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| Prepair 1000+ v0.0 | MBOAT7 |
Zornitza Stark gene: MBOAT7 was added gene: MBOAT7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3) |
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