SMC1A

structural maintenance of chromosomes 1A
OMIM: 300040
PanelMode of inheritanceDetails
9 panels
Green
in Clefting
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
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
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
CORNELIA DE LANGE SYNDROME TYPE 2 300590, EPILEPTIC ENCEPHALOPATHY
R-numbers: R21, R412
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
R-numbers: R59
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
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Component of the following Super Panels:
  • - Cerebral malformations
R-numbers: R85
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
Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
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
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370
R-numbers: R88
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
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
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
Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370