COL4A1

collagen type IV alpha 1 chain
OMIM: 120130
PanelMode of inheritanceDetails
13 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brain small vessel disease with or without ocular anomalies, complex ocular phenotypes involving microphthalmia, Congenital cataracts
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exophytic renal cysts, raised creatinine kinase, tortuous retinal vessels, intracranial anuerysms, haematuria, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PORENCEPHALY 1 175780
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PORENCEPHALY 1
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Brain small vessel disease with or without ocular anomalies 607595, Porencephaly 1 175780, Schizencephaly 269160
Green
in Haematuria
R-numbers: R194
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exophytic renal cysts, raised creatinine kinase, tortuous retinal vessels, intracranial anuerysms, haematuria, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, HANAC
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porencephaly 1 175780
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519, PORENCEPHALY 1
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Eye Disorders
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
raised creatinine kinase, tortuous retinal vessels, intracranial anuerysms, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Exophytic renal cysts, haematuria
R-numbers: R62
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 175780
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification, Porencephaly 1