Joubert syndrome

Gene: NPHP1

Red List (low evidence)

NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 13 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

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

Phenotypes
Joubert syndrome; Nephronophthisis

Publications

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

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

NPHP1 was added to Joubert syndromepanel. Sources: Expert Review

15 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

NPHP1 was created by PennyC