COL4A1

collagen type IV alpha 1 chain
OMIM: 120130, Gene2Phenotype

29 panels

Panel Reviews Mode of inheritance Details
29 panels
Red COL4A1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Red COL4A1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 Other rare neuromuscular disorders


Version 19.199
Latest signed off version: v19.1 (22 Mar 2023)

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 3.31
Latest signed off version: v3.0 (22 Mar 2023)

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 1.17

    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 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.8
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Amber COL4A1 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • 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
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Green COL4A1 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 4.24
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.35

    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 1.179

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Red COL4A1 in Thoracic aortic aneurysm or dissection (GMS)


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    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 1.127

    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 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    Tags
    • Q3_23_promote_green
    • Q3_23_NHS_review
    Red COL4A1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    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 young onset end-stage renal disease


    Version 3.38
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Adult onset neurodegenerative disorder


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PORENCEPHALY 1
    Green COL4A1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 2.13
    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 1.51

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Green COL4A1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    Green COL4A1 in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    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 4.6
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.182

    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