WDR19

WD repeat domain 19
OMIM: 608151, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green WDR19 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 1.30	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Renal Version 3.15 Latest signed off version: v3.5 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Renal Version 8.5 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	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 1.124	review	Not set	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 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green WDR19 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes Cranioectodermal dysplasia type 4 614378
Green WDR19 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA 4 614378 ASPHYXIATING THORACIC DYSTROPHY 5 614376
Amber WDR19 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY SRTD5
Red WDR19 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	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 1.180	review	BIALLELIC, autosomal or pseudoautosomal	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
Green WDR19 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Renal Version 4.7 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	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 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	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 Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH

WDR19

20 panels

Green WDR19 in Thoracic dystrophies

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Phenotypes

No list WDR19 in Limb disorders

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Phenotypes

Tags

Red WDR19 in Ectodermal dysplasia

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Phenotypes

Red WDR19 in Ectodermal dysplasia without a known gene mutation

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Phenotypes

Green WDR19 in Tubulointerstitial kidney disease

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Phenotypes

Green WDR19 in Cystic kidney disease

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Phenotypes

Red WDR19 in Unexplained kidney failure in young people

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Phenotypes

Red WDR19 in Primary ciliary disorders

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Phenotypes

Green WDR19 in Skeletal dysplasia

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Phenotypes

Green WDR19 in Fetal anomalies

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Phenotypes

Red WDR19 in Rare syndromic craniosynostosis or isolated multisuture synostosis

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Phenotypes

Green WDR19 in DDG2P

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Phenotypes

Amber WDR19 in Clefting

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Phenotypes

Red WDR19 in Intellectual disability

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Phenotypes

Green WDR19 in Retinal disorders

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Phenotypes

Green WDR19 in Rare multisystem ciliopathy disorders

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Phenotypes

Green WDR19 in Ophthalmological ciliopathies

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Phenotypes

Green WDR19 in Renal ciliopathies

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Phenotypes

Green WDR19 in Skeletal ciliopathies

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Phenotypes

Red WDR19 in Childhood onset dystonia, chorea or related movement disorder

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