1. Panels
  2. Haematuria_Alport
  3. NPHS2
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Haematuria_Alport

Gene: NPHS2

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

in proteinuria panel
Created: 3 Jan 2020, 5:09 a.m. | Last Modified: 3 Jan 2020, 5:09 a.m.
Panel Version: 0.19
Created: 3 Jan 2020, 5:09 a.m.
Last Modified: 3 Jan 2020, 5:09 a.m.
Panel version: 0.19

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
604766
Clinvar variants
Variants in NPHS2
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphs2 has been classified as Red List (Low Evidence).

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: nphs2 has been classified as Red List (Low Evidence).

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: nphs2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPHS2 was added gene: NPHS2 was added to Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPHS2 was set to Unknown