COL4A1

collagen type IV alpha 1 chain
OMIM: 120130, Gene2Phenotype

27 panels

Panel Reviews Mode of inheritance Details
27 panels

Red COL4A1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Red COL4A1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red COL4A1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.58
Latest signed off version: v2.2 (2 Mar 2020)

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


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

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

Amber COL4A1 in Neuromuscular disorders


Version 5.234
Latest signed off version: v5.43 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • walker warburg syndrome, muscle eye brain disease

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


Version 1.198
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • 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 Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.84
    Latest signed off version: v2.76 (5 Aug 2021)

    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 White matter disorders - adult onset


    Version 1.30
    Latest signed off version: v1.25 (5 Aug 2021)

    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 Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.26
    Latest signed off version: v2.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 1.28

    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 1.138

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature

    Red COL4A1 in Thoracic aortic aneurysm and dissection


    Version 1.18
    Latest signed off version: v1.2 (19 Feb 2020)

    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 1.123

    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.16
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • walker warburg syndrome, muscle eye brain disease
    • Brain small vessel disease with or without ocular anomalies, 175780

    Red COL4A1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.122
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • walker warburg syndrome, muscle eye brain disease

    Green COL4A1 in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • raised creatinine kinase
    • tortuous retinal vessels
    • intracranial anuerysms
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
    • Exophytic renal cysts
    • haematuria

    Green COL4A1 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PORENCEPHALY 1

    Green COL4A1 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.11
    Latest signed off version: v2.4 (15 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 1.42

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory

    Green COL4A1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.429
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders

    Green COL4A1 in Structural eye disease


    Version 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    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 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.55
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773

    Green COL4A1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
    • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564
    • Brain small vessel disease with or without ocular anomalies, 175780
    • ?Retinal arteries, tortuosity of, 180000