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Fetal anomalies

Gene: NPHP4

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported.
Created: 17 Jul 2021, 7:57 a.m. | Last Modified: 17 Jul 2021, 7:57 a.m.
Panel Version: 0.268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 17 Jul 2021, 7:57 a.m.
Last Modified: 17 Jul 2021, 7:57 a.m.
Panel version: Imported from Renal Ciliopathies and Nephronophthisis panel version 0.268

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Single publication in 2012 reported biallelic variants in a consanguineous family and additional heterozygous variants in sporadic patients with cardiac laterality defects. Knockdown nphp4 expression in zebrafish caused laterality defects.

PMID: 22550138; Frenh 2012: Hom missense reported in a consang family with with cardiac laterality defects. 9 additional het sporadic cases reported with features of heterotaxy. p.(Ala1110Val) reported in one patient with abdominal situs inversus but variant is present in gnomAD (1007 hets and 3 hom), another missense, p.(Pro541Leu), reported in patient with midline liver and asplenia (variant is present 228x in gnomAD). Most of the variants in the sporadic cases either many hets or present in homozygosity.
Sources: Expert Review
Created: 31 May 2020, 10:45 p.m.

Mode of inheritance
Unknown

Phenotypes
Pleiotropic Heart Malformations (PMID: 22550138)

Publications

Created: 31 May 2020, 10:45 p.m.

Panel version: Imported from Heterotaxy panel version 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 4, MIM# 606966
  • Senior-Loken syndrome 4, MIM# 606996
OMIM
607215
Clinvar variants
Variants in NPHP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp4 has been classified as Green List (High Evidence).

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPHP4 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPHP4 was added gene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4