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Skeletal dysplasia

Gene: WDR19

Green List (high evidence)

WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 25 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Cilliopathies with major skeletal involvement gp of SDs - only a couple of cases reported with skeletal phenotype? Variants also identified in nephronophthisis 13; Senior-Loken syndrome 8; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Cranioectodermal dysplasia 4, 614378

Publications

Eleanor Williams (Genomics England Curator)

I don't know

PMID: 22019273 - Bredrup et al. (2011) - 2 cases. Case 1 - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Case 2 - They also found a a Dutch patient (previously described in Vries et al, 2010) with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P).

PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies (such as right-convex scoliosis and congenital hip dysplasia), strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) .

3 cases in total.
Created: 7 May 2019, 10:12 p.m. | Last Modified: 17 Jul 2019, 2:52 p.m.
Panel Version: 1.192
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: WDR19; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:37 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

History Filter Activity

6 May 2019, Gel status: 3

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Cranioectodermal dysplasia 4, 614378; Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19 Publications for gene WDR19 were changed from to 22019273; 24504730

6 Mar 2019, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to WDR19.

9 Aug 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

WDR19 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services WDR19 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen WDR19 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene WDR19 was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

WDR19 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

WDR19 was added to Unexplained skeletal dysplasiapanel. Sources: