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Haematuria

Gene: NPHS2

Red List (low evidence)
NPHS2 (NPHS2, podocin)
EnsemblGeneIds (GRCh38): ENSG00000116218
EnsemblGeneIds (GRCh37): ENSG00000116218
OMIM: 604766, Gene2Phenotype
NPHS2 is in 6 panels

4 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

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.
Created: 6 Feb 2019, 3:23 p.m.

Panel version: 1.18

Eleanor Williams (Genomics England Curator)

I don't know

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

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

Panel version: 1.18

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: This is not associated with the right phenotype.
Created: 29 Jan 2016, 1:09 p.m.
Created: 29 Jan 2016, 1:09 p.m.

Panel version: 0.26

Daniel Gale (UCL)

Red List (low evidence)

Biallelic disease associated with nephrotic syndrome and kidney disease.
Created: 7 Oct 2015, 1:12 p.m.

Mode of inheritance
Other

Created: 7 Oct 2015, 1:12 p.m.

Panel version: 0

Details

Sources
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Hematuria, Benign Familial
  • Alport Syndrome, X-Linked
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, Autosomal Dominant
  • Nephrotic Syndrome, Type 2
  • ?Modifier of COL4A variants
OMIM
604766
Clinvar variants
Variants in NPHS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

17 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NPHS2 were set to

3 Feb 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NPHS2.

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHS2 was added to Familial haematuriapanel. Sources: UKGTN