WDR19

Green WDR19 in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Asphyxiating thoracic dystrophy 5, 614376

No list WDR19 in Limb disorders

Version 4.19
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services

Phenotypes

• ?Cranioectodermal dysplasia 4 614378
• ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376

Tags

• curated_removed

Red WDR19 in Ectodermal dysplasia

Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Cranioectodermal dysplasia 4, 614378
• Cranioectodermal Dysplasia
• Asphyxiating thoracic dystrophy 5, 614376
• Nephronophthisis 13, 614377

Red WDR19 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28

Sources

• Expert Review Red
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Asphyxiating thoracic dystrophy 5, 614376
• Nephronophthisis 13, 614377
• Cranioectodermal dysplasia 4, 614378
• Cranioectodermal Dysplasia

Green WDR19 in Tubulointerstitial kidney disease

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Nephronopthisis 13 MIM 614377
• ?Cranioectodermal dysplasia 4, MIM 614378
• ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376
• Senior-Loken syndrome 8, MIM 616307

Green WDR19 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 Green
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Nephronophthisis 13, Senior-Loken

Red WDR19 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 WDR19 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green WDR19 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory

Phenotypes

• Cranioectodermal dysplasia 4, 614378
• Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
• Asphyxiating thoracic dystrophy 5, 614376
• SRTD5

Green WDR19 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

• Nephronophthisis 13
• Ciliopathy genes associated with cystic kidney disease
• Senior-Loken

Green WDR19 in Fetal anomalies

Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ASPHYXIATING THORACIC DYSTROPHY 5
• CRANIOECTODERMAL DYSPLASIA 4

Red WDR19 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS

Phenotypes

• Cranioectodermal dysplasia type 4 614378

Green WDR19 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CRANIOECTODERMAL DYSPLASIA 4 614378
• ASPHYXIATING THORACIC DYSTROPHY 5 614376

Amber WDR19 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.109
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber

Phenotypes

• SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
• SRTD5

Red WDR19 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Nephronophthisis 13, 614377
• Cranioectodermal dysplasia 4, 614378
• Short-rib thoracic dysplasia 5 with or without polydactyly, 614376

Green WDR19 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Genetic Retinal Degeneration Conditions

Green WDR19 in Rare multisystem ciliopathy disorders

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

Sources

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

Phenotypes

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

Red WDR19 in Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Sources

• Expert Review Red
• Expert review red
• Literature

Phenotypes

• Congenital or cystic renal disease
• MIM 614377
• Nephronophthisis 13

Green WDR19 in Ophthalmological ciliopathies

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

Component of the following Super Panels:

Sources

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

Phenotypes

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

Green WDR19 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

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

Phenotypes

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

Green WDR19 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

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

Phenotypes

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

Red WDR19 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

Green WDR19 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

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