Research panel - Severe Paediatric Disorders
Gene: WDR19

WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: WDR19; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Cranioectodermal dysplasia 4, 614378 (3) | Nephronophthisis 13, 614377 (3) | Senior-Loken syndrome 8, 616307 (3) | ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Senior-Loken syndrome 8, 616307
?Cranioectodermal dysplasia 4, 614378
Nephronophthisis 13, 614377
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376

OMIM

608151

Clinvar variants

Variants in WDR19

Penetrance

None

Publications

30847515

Panels with this gene