WDPCP

Red WDPCP in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Red WDPCP in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert list
• Expert Review Red
• Emory Genetics Laboratory

Phenotypes

• Congenital Obesity

Red WDPCP in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

Sources

• Emory Genetics Laboratory

Green WDPCP in Limb disorders

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

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

No list WDPCP in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• ?Bardet-Biedl syndrome 15 (615992)

Tags

• curated_removed

Amber WDPCP in Bardet Biedl syndrome

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• Expert Review Amber
• NHS GMS
• Other

Phenotypes

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

Red WDPCP in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red WDPCP in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red WDPCP in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green WDPCP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

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

Green WDPCP in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• ?Bardet-Biedl syndrome 15 615992

Red WDPCP in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

Sources

• Literature

Phenotypes

• anorectal malformation

Green WDPCP in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 15

Green WDPCP in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 15 209900

Green WDPCP in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 15 (BBS15)

Green WDPCP in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Bardet-Biedl syndrome 15, OMIM:615992
• OFD
• Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085

Red WDPCP in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• ?Bardet-Biedl syndrome 15, 615992
• Eye Disorders

Green WDPCP in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171

Sources

• Expert Review Green
• Orphanet
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

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

Green WDPCP in Ophthalmological ciliopathies

Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Emory Genetics Laboratory

Phenotypes

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

Green WDPCP in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Emory Genetics Laboratory

Phenotypes

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

No list WDPCP in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Emory Genetics Laboratory

Phenotypes

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

Tags

• curated_removed

Red WDPCP in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Amber WDPCP in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Amber
• Expert list

Phenotypes

• ?Urocanase deficiency, 276880