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| Skeletal ciliopathies v1.10 | WDPCP | Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.42 | WDPCP | Eleanor Williams Classified gene: WDPCP as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.42 | WDPCP | Eleanor Williams Added comment: Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.42 | WDPCP | Eleanor Williams Gene: wdpcp has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.21 | WDPCP |
Eleanor Williams changed review comment from: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants 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 orofacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.; to: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants 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. |
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| Skeletal ciliopathies v0.21 | WDPCP |
Eleanor Williams commented on gene: WDPCP: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants 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 orofacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS. |
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| Skeletal ciliopathies v0.5 | WDPCP |
Eleanor Williams commented on gene: WDPCP: From OMIM: ?Bardet-Biedl syndrome 15 - no clinical features reported ?Congenital heart defects, hamartomas of tongue, and polysyndactyly - Syndactyly, fingers 2-3 and Postaxial polydactyly |
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| Skeletal ciliopathies v0.1 | WDPCP |
Eleanor Williams gene: WDPCP was added gene: WDPCP was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDPCP were set to 20671153 Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; Meckel syndrome; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 |
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