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  2. Syndromic Retinopathy
  3. WDPCP
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Syndromic Retinopathy

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 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.
Created: 15 Oct 2020, 9:42 a.m. | Last Modified: 15 Oct 2020, 9:42 a.m.
Panel Version: 0.4930
Two families reported; the first one with a BBS phenotype, and in the second one affected individual had polysyndactyly and tongue hamartomas, so phenotype consistent with OFD rather than BBS.
Created: 15 Oct 2020, 9:19 a.m. | Last Modified: 15 Oct 2020, 9:19 a.m.
Panel Version: 0.4926

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Publications

Created: 15 Oct 2020, 9:19 a.m.
Last Modified: 15 Oct 2020, 9:19 a.m.
Panel version: Imported from Mendeliome panel version 0.4930

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia not a reported phenotypic feature associated with this gene.`
Sources: Expert list
Created: 17 Jan 2020, 1:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085

Created: 17 Jan 2020, 1:18 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
OMIM
613580
Clinvar variants
Variants in WDPCP
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: WDPCP was added gene: WDPCP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal