Haematuria
Gene: NPHS2
Following discussion on 04/02/19 with NHS GMS renal specialist group, it was agreed that although this gene may have a modifying effect, it is not a monogenic cause of haematuria.Created: 6 Feb 2019, 3:23 p.m.
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: NPHS2; Suggested initial gene rating: Amber; Evidence for inclusion: PMID: 26138234; 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
Unknown
Phenotypes
?Modifier of COL4A variants
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: This is not associated with the right phenotype.Created: 29 Jan 2016, 1:09 p.m.
Biallelic disease associated with nephrotic syndrome and kidney disease.Created: 7 Oct 2015, 1:12 p.m.
Mode of inheritance
Other
Phenotypes for gene: NPHS2 were changed from Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2 to Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2; ?Modifier of COL4A variants
Publications for gene: NPHS2 were set to
Source NHS GMS was added to NPHS2.
This gene has been classified as Red List (Low Evidence).
NPHS2 was added to Familial haematuriapanel. Sources: UKGTN