Joubert syndrome

Gene: ZNF423

Red List (low evidence)

ZNF423 (zinc finger protein 423)
EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 14 panels

1 review

Penny Clouston (Oxford)

Red List (low evidence)

On current diagnostic panel; no positive families in patient cohort to date.
Created: 16 Mar 2016, 4:02 p.m.

Phenotypes
Joubert syndrome; nephronphthisis

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

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

ZNF423 was added to Joubert syndromepanel. Sources: Expert Review

16 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

ZNF423 was created by PennyC