PanelApp (stage)
  1. Genes and Genomic Entities
  2. COL4A1

COL4A1

collagen type IV alpha 1 chain
OMIM: 120130, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green COL4A1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD
    • 2. Brain small vessel disease with or without ocular anomalies, 175780, AD
    • 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD
    • 4. ?Retinal arteries, tortuosity of, 180000, AD
    • 5. {Hemorrhage, intracerebral, susceptibility to}, 614519

    Green COL4A1 in Early-onset Dementia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289
    • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814

    Green COL4A1 in Vasculitis


    Level 2: Immunological disorders
    Version 0.82

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COL4A1 in Haematuria_Alport


    Level 2: Renal and urinary tract disorders
    Version 1.1

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773

    Green COL4A1 in Anophthalmia_Microphthalmia_Coloboma


    Level 2: Ophthalmological disorders
    Version 1.39

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain small vessel disease with or without ocular anomalies, MIM#175780

    Green COL4A1 in Eye Anterior Segment Abnormalities


    Level 2: Ophthalmological disorders
    Version 1.12

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
    • Brain small vessel disease with or without ocular anomalies 175780
    • Microangiopathy and leukoencephalopathy, pontine 618564

    Green COL4A1 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain small vessel disease with or without ocular anomalies, MIM# 175780

    Green COL4A1 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COL4A1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519
    • Brain small vessel disease MIM#614483

    Amber COL4A1 in Glaucoma congenital


    Level 2: Ophthalmological disorders
    Version 1.9

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain small vessel disease with or without ocular anomalies, MIM# 175780

    Green COL4A1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COL4A1 in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773
    • Brain small vessel disease with or without ocular anomalies MIM#175780
    • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564

    Amber COL4A1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773
    • Brain small vessel disease with or without ocular anomalies MIM#175780
    • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564

    Green COL4A1 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 0.69

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773

    Green COL4A1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773
    • Brain small vessel disease with or without ocular anomalies MIM#175780
    • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564

    Green COL4A1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green COL4A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • COL4A1-related disorder MONDO:0800461

    Green COL4A1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773
    • Brain small vessel disease with or without ocular anomalies, 175780

    Red COL4A1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert list
    Phenotypes
    • Recurrent rhabdomyolysis
    • infections
    • hypertrophic cardiomyopathy.

    Green COL4A1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Brain small vessel disease with or without ocular anomalies MIM#175780
    • Brain Small Vessel Disease with Hemorrhage

    Green COL4A1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
    • Brain small vessel disease with or without ocular anomalies, MIM# 175780

    Green COL4A1 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brain small vessel disease with or without ocular anomalies, MIM#175780
    • Porenecphaly