Structural eye disease
Gene: COX7BComment 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.Created: 22 Nov 2021, 11:31 a.m. | Last Modified: 22 Nov 2021, 11:31 a.m.
Panel Version: 1.92
Indrieri reported three families with COX7B variants, but only one individual had an eye anomaly (pale optic discs) - despite this COX7B was classed as microphthalmia with linear skin defects as same spectrum of anomalies as with HCCS variants.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2
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)
Source NHS GMS was added to COX7B. Publications for gene COX7B were changed from to 23122588
Source Expert Review Amber was added to COX7B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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