Heterotaxy

Gene: NPHP4

Amber List (moderate evidence)

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

1 review

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pleiotropic Heart Malformations (PMID: 22550138)
OMIM
607215
Clinvar variants
Variants in NPHP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp4 has been classified as Amber List (Moderate Evidence).

1 Jun 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPHP4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Jun 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPHP4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nphp4 has been classified as Amber List (Moderate Evidence).

31 May 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: NPHP4 was added gene: NPHP4 was added to Heterotaxy. Sources: Expert Review Mode of inheritance for gene: NPHP4 was set to Unknown Publications for gene: NPHP4 were set to 22550138 Phenotypes for gene: NPHP4 were set to Pleiotropic Heart Malformations (PMID: 22550138) Review for gene: NPHP4 was set to AMBER