COL4A2

collagen type IV alpha 2 chain
OMIM: 120090
PanelMode of inheritanceDetails
6 panels
R-numbers: R62
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain small vessel disease 2, OMIM:614483
R-numbers: R58
Signed-off version 4.34
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease 2, OMIM:614483, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PORENCEPHALY 2 614483
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porencephaly 2 614483
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PORENCEPHALY 2
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519, PORENCEPHALY 2