HCFC1

host cell factor C1
OMIM: 300019
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.137
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION, X-LINKED 3 309541, COBALAMIN DISORDER
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION, X-LINKED 3, COBALAMIN DISORDER
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
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, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 3, 309541, MENTAL RETARDATION, X-LINKED 3, MRX3