Haematuria
Gene: COL4A1
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
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria
Publications
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
Publications for gene: COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163; 28717939
Source NHS GMS was added to COL4A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163;28717939
Publications for COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163
Publications for COL4A1 were set to 18160688; 20818663; 27190376;26839400
Publications for COL4A1 were set to 18160688; 20818663; 27190376
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
Publications for COL4A1 were set to 18160688; 20818663
COL4A1 was created by jasayer
COL4A1 was added to Familial haematuriapanel. Sources: Expert Review