IFT172

Red IFT172 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

Sources

• Expert Review Red
• Expert Review
• Literature

Phenotypes

• GH deficiency, retinopathy, metaphyseal dysplasia

Green IFT172 in Thoracic dystrophies

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

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

Red IFT172 in Pituitary hormone deficiency

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert review

Phenotypes

• retinopathy, metaphyseal dysplasia

No list IFT172 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 IFT172 in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Short-rib thoracic dysplasia 10 with or without polydactyly (615630)

Tags

• curated_removed

Green IFT172 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

Phenotypes

• Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
• SRTD10

Amber IFT172 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 10 with or without polydactyly, OMIM:615630

Tags

• Q4_23_promote_green

Green IFT172 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
• JEUNE SYNDROME

Green IFT172 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

• JEUNE SYNDROME
• MAINZER-SALDINO SYNDROME 266920

Green IFT172 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 10 WITH OR WITHOUT POLYDACTYLY
• SRTD10

Red IFT172 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• GH deficiency, retinopathy, metaphyseal dysplasia

Green IFT172 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 Green

Phenotypes

• MAINZER-SALDINO SYNDROME

Green IFT172 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

• Expert Review Green
• NHS GMS
• RetNet

Phenotypes

• Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618

Green IFT172 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171

Sources

• Expert Review Green
• Other
• Orphanet
• UKGTN
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Retinitis pigmentosa 71, 616394
• Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
• Jeune syndrome
• Saldino-Mainzer syndrome
• Short-rib thoracic dysplasia 10 with or without polydactyly

Green IFT172 in Ophthalmological ciliopathies

Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Other

Phenotypes

• Retinitis pigmentosa 71, 616394
• Short-rib thoracic dysplasia 10 with or without polydactyly
• Saldino-Mainzer syndrome
• Jeune syndrome
• Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

Green IFT172 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 list

Phenotypes

• Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630

Green IFT172 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

• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Other

Phenotypes

• Retinitis pigmentosa 71, 616394
• Short-rib thoracic dysplasia 10 with or without polydactyly
• Saldino-Mainzer syndrome
• Jeune syndrome
• Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

Red IFT172 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 IFT172 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
• Retinitis pigmentosa 71, 616394