| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v0.147 | EYS | Zornitza Stark Marked gene: EYS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Gene: eys has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Classified gene: EYS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Gene: eys has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | EYS | Zornitza Stark Tag for review was removed from gene: EYS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | EYS | Zornitza Stark reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | BGN | Zornitza Stark Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 (3), X-linked to Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.97 | BGN | Zornitza Stark reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | EYS | Zornitza Stark Tag for review tag was added to gene: EYS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | EYS |
Crystle Lee gene: EYS was added gene: EYS was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EYS were set to 31074760 Phenotypes for gene: EYS were set to Retinitis pigmentosa 25 (MIM#602772) Review for gene: EYS was set to AMBER Added comment: Well established gene disease association. Highly variable age of onset of retinal disease Sources: Literature |
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| Prepair 1000+ v0.58 | BGN | Crystle Lee reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27632686, 17502576, 27236923; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | BGN |
Zornitza Stark gene: BGN was added gene: BGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked |
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