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Haematuria

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, Febuary 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COL4A1; Suggested initial gene rating: Green; Evidence for inclusion: PMID: 27190376;19238787; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided;
Created: 3 Feb 2019, 3:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #61173

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with Daniel Gale (UCL) that this gene should be green on this panel.
Created: 2 Nov 2017, 9:48 a.m.
Comment on list classification: This gene was added by a reviewer and rated green. Variants in this gene have been reported in >3 families with HANAC. Haematuria is a feature, but not in all cases (PMID: 20818663).
Created: 1 Nov 2017, 10:35 a.m.

John Sayer (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria

Publications

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL4A1 were changed from Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; HANAC to Exophytic renal cysts; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773

17 Jun 2019, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163; 28717939

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL4A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Nov 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Nov 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163;28717939

1 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163

1 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 18160688; 20818663; 27190376;26839400

1 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 18160688; 20818663; 27190376

1 Nov 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Nov 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Nov 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL4A1 were set to Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773;HANAC

1 Nov 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to 18160688; 20818663

7 Dec 2016, Gel status: 0

Created

John Sayer (Newcastle University)

COL4A1 was created by jasayer

7 Dec 2016, Gel status: 0

Added New Source

John Sayer (Newcastle University)

COL4A1 was added to Familial haematuriapanel. Sources: Expert Review