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| Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Marked gene: GRHL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Classified gene: GRHL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.13 | GRHL2 | Zornitza Stark Tag deep intronic tag was added to gene: GRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.13 | GRHL2 |
Zornitza Stark gene: GRHL2 was added gene: GRHL2 was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRHL2 were set to 29499165 Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Review for gene: GRHL2 was set to GREEN Added comment: PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT Sources: Expert list |
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