WDR35

WD repeat domain 35
OMIM: 613602, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green WDR35 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cranioectodermal dysplasia 2, 613610Short rib-polydactyly syndrome, type V, 614091
No list WDR35 in Limb disorders Level 2: Musculoskeletal Version 7.20 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 2 613610 Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Tags curated_removed
Red WDR35 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 Short rib-polydactyly syndrome, type V, 614091 Cranioectodermal dysplasia 2, 613610 Cranioectodermal Dysplasia
Red WDR35 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 Cranioectodermal dysplasia 2, 613610 Short rib-polydactyly syndrome, type V, 614091 Cranioectodermal Dysplasia
No list WDR35 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Cranioectodermal dysplasia 2 (613610) Short-rib thoracic dysplasia 7 with or without polydactyly (614091) Tags curated_removed
Red WDR35 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green WDR35 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 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 Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Cranioectodermal dysplasia 2 613610
Green WDR35 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA 2 SHORT RIB-POLYDACTYLY SYNDROME, TYPE V
Green WDR35 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) 613610 613610
No list WDR35 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green WDR35 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 2 613610 SHORT RIB-POLYDACTYLY SYNDROME, TYPE V 614091
Amber WDR35 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 7 WITH OR WITHOUT POLYDACTYLY SRTD7
Red WDR35 in Intellectual disability Level 2: Developmental disorders Version 9.280 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 Cranioectodermal dysplasia 2, 613610 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Green WDR35 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 Cranioectodermal dysplasia 2, 613610 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly
Green WDR35 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 Cranioectodermal dysplasia 2, 613610 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Green WDR35 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 Cranioectodermal dysplasia 2, 613610 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Red WDR35 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