COL4A1

collagen type IV alpha 1 chain
OMIM: 120130, Gene2Phenotype

25 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 25 panels
Red COL4A1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red COL4A1 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS Expert Review Red Other Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Hemorrhage, intracerebral, susceptibility to}, 614519 Brain Small Vessel Disease with Hemorrhage {Hemorrhage, intracerebral, susceptibility to} Brain small vessel disease with or without ocular anomalies
Green COL4A1 in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Brain small vessel disease with or without ocular anomalies, OMIM:175780
Green COL4A1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification Porencephaly 1
Green COL4A1 in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Cerebral Small Vessel Disease stroke migraine Axenfeld-Rieger Anomaly cognitive impairment dementia seizures myopathy infantile hemiparesis developmental delay Porencephaly 1 175780 {Hemorrhage, intracerebral, susceptibility to} 614519
Green COL4A1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Phenotypes Brain small vessel disease with or without ocular anomalies complex ocular phenotypes involving microphthalmia Congenital cataracts
Green COL4A1 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 Brain small vessel disease with or without ocular anomalies, 175780
Green COL4A1 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature 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 COL4A1 in Cystic kidney disease Level 2: Renal Version 8.5 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Exophytic renal cysts raised creatinine kinase tortuous retinal vessels intracranial anuerysms haematuria Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
Green COL4A1 in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.36	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Porencephaly 1 Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
Red COL4A1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature
Red COL4A1 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH South West GLH Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
Red COL4A1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773
Amber COL4A1 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS London South GLH Expert Review Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Red COL4A1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes walker warburg syndrome, muscle eye brain disease
Green COL4A1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list 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 COL4A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes PORENCEPHALY 1
Green COL4A1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PORENCEPHALY 1 175780
Green COL4A1 in Haematuria Level 2: Renal Version 2.17 Latest signed off version: v2.15 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Review Phenotypes Exophytic renal cysts haematuria Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
Green COL4A1 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Emory Genetics Laboratory
Green COL4A1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert 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 COL4A1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen 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 COL4A1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Eye Disorders
Green COL4A1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
Red COL4A1 in Proteinuric renal disease Level 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773

COL4A1

25 panels

Red COL4A1 in Glaucoma (developmental)

Sources

Phenotypes

Red COL4A1 in Cerebral vascular malformations

Sources

Phenotypes

Green COL4A1 in Hydrocephalus

Sources

Phenotypes

Green COL4A1 in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green COL4A1 in Familial cerebral small vessel disease

Sources

Phenotypes

Green COL4A1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green COL4A1 in Adult onset leukodystrophy

Sources

Phenotypes

Green COL4A1 in Malformations of cortical development

Sources

Phenotypes

Green COL4A1 in Cystic kidney disease

Sources

Phenotypes

Green COL4A1 in Intracerebral calcification disorders

Sources

Phenotypes

Red COL4A1 in Inherited white matter disorders

Sources

Red COL4A1 in Thoracic aortic aneurysm or dissection (GMS)

Sources

Phenotypes

Red COL4A1 in Thoracic aortic aneurysm or dissection

Sources

Phenotypes

Amber COL4A1 in Congenital muscular dystrophy

Sources

Phenotypes

Red COL4A1 in Arthrogryposis

Sources

Phenotypes

Green COL4A1 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green COL4A1 in Fetal anomalies

Sources

Phenotypes

Green COL4A1 in DDG2P

Sources

Phenotypes

Green COL4A1 in Haematuria

Sources

Phenotypes

Green COL4A1 in Anophthalmia or microphthalmia

Sources

Green COL4A1 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green COL4A1 in Intellectual disability

Sources

Phenotypes

Green COL4A1 in Retinal disorders

Sources

Phenotypes

Green COL4A1 in Structural eye disease

Sources

Phenotypes

Red COL4A1 in Proteinuric renal disease

Sources

Phenotypes