Genomics England
GMS Panels
Panels
Genes and Entities

COX7B

cytochrome c oxidase subunit 7B
OMIM: 300885
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
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
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
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
Green
in Mitochondrial disorder with complex IV deficiency
R-numbers: R356
Signed-off version 3.20
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
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
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
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
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, OMIM:300887
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
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