Neonatal cholestasis

Gene: NPHP3

Amber List (moderate evidence)

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 25 panels

2 reviews

Anna de Burca (Genomics England Curator)

Comment on list classification: Cholestasis is not a major feature of Nephronophthisis 3. Biallelic variants in this gene have been reported in Caroli syndrome and renal-hepatic-pancreatic dysplasia; only a small number of cases have been reported and features vary. It would be less likely for variants in this gene to present with isolated cholestasis; NPHP3 is on a number of other panels including rare multisystem ciliopathies and cystic kidneys.
Created: 25 Jul 2018, 2:13 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis

History Filter Activity

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: nphp3 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: NPHP3 were set to 21845392; 18371931; 20007846; 23686967

25 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: NPHP3 were set to 21845392; 18371931; 20007846

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: nphp3 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Anna de Burca (Genomics England Curator)

Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 208540

25 Jul 2018, Gel status: 1

Set Phenotypes

Anna de Burca (Genomics England Curator)

Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia

25 Jul 2018, Gel status: 1

Set mode of inheritance

Anna de Burca (Genomics England Curator)

Mode of inheritance for gene: NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 1

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: NPHP3 were set to 21845392; 18371931

25 Jul 2018, Gel status: 1

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: NPHP3 were set to 21845392

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NPHP3. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP3 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NPHP3 was created by Ellen McDonagh