IFT140

intraflagellar transport 140
OMIM: 614620, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green IFT140 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mainzer-Saldino Syndrome Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
No list IFT140 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	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list IFT140 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly (266920) Tags curated_removed
Green IFT140 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Research Literature Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 cystic kidney disease, MONDO:0002473 {Polycystic kidney disease 9, susceptibility to}, OMIM:621164
Red IFT140 in Respiratory ciliopathies including non-CF bronchiectasis Level 2: Respiratory Version 4.55 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920
Green IFT140 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 Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Green IFT140 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 MAINZER-SALDINO SYNDROME
Green IFT140 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 Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
No list IFT140 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 IFT140 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 MAINZER-SALDINO SYNDROME 266920
Green IFT140 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 Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY SRTD9
Red IFT140 in Intellectual disability Level 2: Developmental disorders Version 9.285 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 Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
Green IFT140 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 IFT140 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 Radboud University Medical Center, Nijmegen Expert list Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Jeune syndrome Saldino-Mainzer syndrome Short-rib thoracic dysplasia 9 with or without polydactyly Mainzer-Saldino Syndrome
Green IFT140 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 cystic kidney disease, MONDO:0002473 {Polycystic kidney disease 9, susceptibility to}, OMIM:621164
Green IFT140 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 Phenotypes Saldino-Mainzer syndrome Jeune syndrome Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Mainzer-Saldino Syndrome Short-rib thoracic dysplasia 9 with or without polydactyly
Red IFT140 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