| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | HMGB3 | Nicola Ragge reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24993872, ; Phenotypes: ?Microphthalmia, syndromic 13, 300915; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | HMGB3 | Ivone Leong commented on gene: HMGB3: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | HMGB3 |
Ivone Leong Source Expert Review Amber was added to HMGB3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | HMGB3 | Ivone Leong reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: ?Microphthalmia, syndromic 13, 300915; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.30 | HMGB3 | Ivone Leong Phenotypes for gene: HMGB3 were changed from ?Microphthalmia, syndromic 13, 300915; Microphthalmia, syndromic 13, 300915 to ?Microphthalmia, syndromic 13, 300915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | HMGB3 |
Ivone Leong Source NHS GMS was added to HMGB3. Mode of inheritance for gene HMGB3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes ?Microphthalmia, syndromic 13, 300915 for gene: HMGB3 Publications for gene HMGB3 were changed from 4998085 to 24993872 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | HMGB3 |
Ellen McDonagh gene: HMGB3 was added gene: HMGB3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HMGB3 were set to 4998085 Phenotypes for gene: HMGB3 were set to Microphthalmia, syndromic 13, 300915 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||