COX7B

cytochrome c oxidase subunit 7B
OMIM: 300885
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Isolated complex IV deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Linear skin defects with multiple congenital anomalies, Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887, MICROPHTHALMIA WITH LINEAR SKIN LESIONS
R-numbers: R356
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Linear skin defects with multiple congenital anomalies 2, 300887
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Isolated complex IV deficiency, Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887, MICROPHTHALMIA WITH LINEAR SKIN LESIONS, Linear skin defects with multiple congenital anomalies
R-numbers: R63
Signed-off version 1.17
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Linear skin defects with multiple congenital anomalies 2, 300887