Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Corneal Dystrophy v1.2 | CHRDL1 | Alison Yeung Marked gene: CHRDL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.2 | CHRDL1 | Alison Yeung Gene: chrdl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.2 | CHRDL1 | Alison Yeung Classified gene: CHRDL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.2 | CHRDL1 | Alison Yeung Gene: chrdl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.2 | CHRDL1 | Alison Yeung Classified gene: CHRDL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.2 | CHRDL1 | Alison Yeung Gene: chrdl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.1 | CHRDL1 | Alison Yeung Marked gene: CHRDL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.1 | CHRDL1 | Alison Yeung Added comment: Comment when marking as ready: Multiple large families reported with X-linked inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.1 | CHRDL1 | Alison Yeung Gene: chrdl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v1.1 | CHRDL1 |
Alison Yeung gene: CHRDL1 was added gene: CHRDL1 was added to Corneal Dystrophy. Sources: Literature Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CHRDL1 were set to 25093588 Phenotypes for gene: CHRDL1 were set to Megalocornea OMIM# 309300 Review for gene: CHRDL1 was set to GREEN Added comment: Sources: Literature |