| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v0.76 | CHRDL1 | Nicola Ragge reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829; Phenotypes: Megalocornea 1, X-linked, 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CHRDL1 | Ivone Leong edited their review of gene: CHRDL1: Changed phenotypes: Megalocornea 1, X-linked, 309300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CHRDL1 | Ivone Leong reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829; Phenotypes: Macular corneal dystrophy, 217800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CHRDL1 |
Ivone Leong gene: CHRDL1 was added gene: CHRDL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CHRDL1 were set to 22284829 Phenotypes for gene: CHRDL1 were set to Megalocornea 1, X-linked, 309300 |
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