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Rare multisystem ciliopathy disorders

Gene: NPHP1

Green List (high evidence)

NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 22 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Nephronophthisis
Created: 28 Aug 2016, 7:26 a.m.
Comment on list classification: Variants within this gene cause Nephronophthisis. Nephronophthisis is a feature of Senior-Loken syndrome, and of Joubert syndrome 4.
Created: 28 Aug 2016, 7:26 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel and positive familes within patient cohort. Evidence from literature.
Created: 15 Mar 2016, 3:20 p.m.

Phenotypes
Joubert syndrome; Nephronophthisis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

25 Nov 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

25 Nov 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

25 Nov 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene NPHP1 were set to Nephronophthisis;Joubert syndrome 4;609583 Nephronophthisis 1, juvenile;256100 Senior-Loken syndrome-1, 266900

28 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NPHP1 were set to Nephronophthisis

28 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NPHP1 were set to

28 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NPHP1 were set to 15138899; 15689444; 22982934

28 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NPHP1 was created by ellenmcdonagh