WDR19

WD repeat domain 19
OMIM: 608151, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green WDR19 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	2 reviews	Unknown	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert list Expert Review Amber
Green WDR19 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378
Green WDR19 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Cranioectodermal dysplasia 4 , OMIM # 614378
Green WDR19 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Amber WDR19 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376
Green WDR19 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services KidGen_CilioNephronop v38.1.0 Expert Review Green Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307
Green WDR19 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory NHS GMS Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Asphyxiating thoracic dystrophy 5, 614376 Cranioectodermal dysplasia 4, 614378 SRTD5
Green WDR19 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green RetNet Expert Review Green
Green WDR19 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Senior-Loken syndrome 8, 616307 (3)
Amber WDR19 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SRTD5 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
Green WDR19 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert list Genomics England PanelApp Expert Review Green Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378
Green WDR19 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378