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| Structural eye disease v1.92 | COX7B | Ivone Leong Added comment: Comment on mode of inheritance: MOI 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)" as the latter is the correct MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.92 | COX7B | Ivone Leong Mode of inheritance for gene: COX7B 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.91 | COX7B | Nicola Ragge reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23122588; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | COX7B |
Ivone Leong Source NHS GMS was added to COX7B. Publications for gene COX7B were changed from to 23122588 |
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| Structural eye disease v0.88 | COX7B |
Ivone Leong Source Expert Review Amber was added to COX7B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.60 | COX7B | Mariya Moosajee reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | COX7B |
Ivone Leong gene: COX7B was added gene: COX7B was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887 |
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