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Limb disorders

Gene: WDPCP

Green List (high evidence)

WDPCP (WD repeat containing planar cell polarity effector)
EnsemblGeneIds (GRCh38): ENSG00000143951
EnsemblGeneIds (GRCh37): ENSG00000143951
OMIM: 613580, Gene2Phenotype
WDPCP is in 24 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting this gene to green. It has limited evidence in association with Bardet-Biedl syndrome 15, but there are 3 cases reported in association with Oral facial digital syndrome and plausible disease causing variants.
Created: 29 Nov 2019, 12:52 p.m. | Last Modified: 29 Nov 2019, 12:52 p.m.
Panel Version: 1.139
PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants (a missense variant and 2bp deletion leading to a frameshift) in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet.

PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants

PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers.

PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details

3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.
Created: 27 Nov 2019, 3:08 p.m. | Last Modified: 29 Nov 2019, 11:25 a.m.
Panel Version: 1.137
Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. This gene is amber on the GMS Bardet-Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ v1.0
Created: 25 Nov 2019, 10:08 p.m. | Last Modified: 25 Nov 2019, 10:10 p.m.
Panel Version: 1.104
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, 11:15 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in a single case.
Created: 10 Sep 2018, 12:33 p.m.

History Filter Activity

29 Nov 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: WDPCP were set to 25427950

29 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wdpcp has been classified as Green List (High Evidence).

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wdpcp has been classified as Amber List (Moderate Evidence).

25 Nov 2019, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: WDPCP were changed from ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; ?Bardet-Biedl syndrome 15, 615992

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wdpcp 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 WDPCP. Rating Changed from Red List (low evidence) to No List (delete)

10 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: wdpcp has been classified as Red List (Low Evidence).

10 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: WDPCP were set to

10 Sep 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal

10 Sep 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: WDPCP were changed from Polydactyly to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

WDPCP was created by Ellen McDonagh