IFT140

Green IFT140 in Thoracic dystrophies

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

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

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly

Tags

• curated_removed

No list IFT140 in Ductal plate malformation

Version 1.29

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 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

• 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

Red IFT140 in Respiratory ciliopathies including non-CF bronchiectasis

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Literature

Phenotypes

• Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920

Green IFT140 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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

Amber IFT140 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

• NHS GMS
• Expert Review Amber

Phenotypes

• Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
• cystic kidney disease, MONDO:0002473
• short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964

Tags

• Q4_23_promote_green

Green IFT140 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MAINZER-SALDINO SYNDROME

Green IFT140 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

• Expert Review Green
• NHS GMS

Phenotypes

• Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920

No list IFT140 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green IFT140 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MAINZER-SALDINO SYNDROME 266920

Green IFT140 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
• SRTD9

Red IFT140 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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

• Short-rib thoracic dysplasia 9 with or without polydactyly, 266920

Green IFT140 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

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 1.171

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 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

• 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

Green IFT140 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

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

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green IFT140 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
• Retinitis pigmentosa 80, 617781