HCCS

holocytochrome c synthase
OMIM: 300056
PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 7 309801
R-numbers: R21, R412
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
MICROPHTHALMIA SYNDROMIC TYPE 7
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
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, syndromic 7, 309801, MICROPHTHALMIA SYNDROMIC TYPE 7 (MCOPS7)
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 4.0
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 1, Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Microphthalmia, syndromic 7, 309801
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Microphthalmia, syndromic 7, 309801, Linear skin defects with multiple congenital anomalies 1
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 1, OMIM:309801
R-numbers: R63
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 1, 309801
R-numbers: R32
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Eye Disorders, Linear skin defects with multiple congenital anomalies 1, 309801
R-numbers: R36
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
Microphthalmia, syndromic 7, 309801, Linear skin defects with multiple congenital anomalies 1, 309801