Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: COL4A1

Green List (high evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COL4A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) | Brain small vessel disease with or without ocular anomalies, 175780 (3) | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 (3) | ?Retinal arteries, tortuosity of, 180000 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL4A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: COL4A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: COL4A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: COL4A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Retinal arteries, tortuosity of, 180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 for gene: COL4A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to COL4A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to COL4A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COL4A1 was added gene: COL4A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL4A1 was set to