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  3. NPHP4
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Cholestasis

Gene: NPHP4

Red List (low evidence)
NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find evidence for association with liver phenotypes/cholestasis.
Created: 9 Aug 2020, 6:51 a.m. | Last Modified: 9 Aug 2020, 6:51 a.m.
Panel Version: 0.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996

Created: 9 Aug 2020, 6:51 a.m.
Last Modified: 9 Aug 2020, 6:51 a.m.
Panel version: 0.119

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 4, MIM# 606966
  • Senior-Loken syndrome 4, MIM# 606996
OMIM
607215
Clinvar variants
Variants in NPHP4
Penetrance
None
Panels with this gene

History Filter Activity

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp4 has been classified as Red List (Low Evidence).

9 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996

9 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp4 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: NPHP4 was added gene: NPHP4 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPHP4 was set to Unknown