Haematuria
Gene: COL4A1

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 25 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

PMID: 27190376
19238787

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

Created: 3 Feb 2019, 3:19 p.m.

Panel version: 1.18

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.

Created: 1 Nov 2017, 10:35 a.m.

Panel version: 1.8

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

18160688

Created: 7 Dec 2016, 11:49 a.m.

Panel version: 1.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Exophytic renal cysts
haematuria
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773

OMIM

120130

Clinvar variants

Variants in COL4A1

Penetrance

Complete

Publications

Panels with this gene

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