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  2. Neonatal cholestasis
  3. NPHP1
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Neonatal cholestasis

Gene: NPHP1

Red List (low evidence)
NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Comment on list classification: Cholestasis is not a major element of any of the ciliopathy phenotypes associated with this gene.
Created: 25 Jul 2018, 1:20 p.m.
Created: 25 Jul 2018, 1:20 p.m.

Panel version: 0.116

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nephronophthisis

Created: 16 Jun 2018, 11:19 p.m.

Panel version: 0.18

History Filter Activity

3 Sep 2018, Gel status: 1

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: 1

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Gene: nphp1 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Gene: nphp1 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Phenotypes for gene: NPHP1 were set to N/A

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NPHP1. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NPHP1 was created by Ellen McDonagh