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Limb disorders

Gene: NPHP3

No list

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 11:08 p.m.

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Comment on list classification

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nphp3 has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nphp3 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to NPHP3. Rating Changed from Red List (low evidence) to No List (delete)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NPHP3 was created by Ellen McDonagh