Genomics England
GMS Panels
Panels
Genes and Entities

COL4A2

collagen type IV alpha 2 chain
OMIM: 120090
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PORENCEPHALY 2 614483
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porencephaly 2 614483
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PORENCEPHALY 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519, PORENCEPHALY 2
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain small vessel disease 2, OMIM:614483
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
  • - Paediatric disorders
Signed-off version 8.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease 2, OMIM:614483, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease 2, OMIM:614483, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519