Genomics England

COL4A1

collagen type IV alpha 1 chain

OMIM: 120130

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	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
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Brain small vessel disease with or without ocular anomalies, OMIM:175780, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Brain small vessel disease with or without ocular anomalies, complex ocular phenotypes involving microphthalmia, Congenital cataracts
Green in Cystic kidney disease Component of the following Super Panels: - Cystic renal disease - Unexplained young onset end-stage renal disease Signed-off version 5.4	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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PORENCEPHALY 1 175780
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 R-numbers: R59 Signed-off version 5.10	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 Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PORENCEPHALY 1
Green in Haematuria Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R194 Signed-off version 2.14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Exophytic renal cysts, haematuria, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Brain small vessel disease with or without ocular anomalies, OMIM:175780
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773, Brain small vessel disease with or without ocular anomalies, OMIM:175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564, {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Eye Disorders
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification, Porencephaly 1