IFT172

intraflagellar transport 172
OMIM: 607386, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red IFT172 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
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 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630

No list IFT172 in Limb disorders


Version 2.0

review Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly

No list IFT172 in Ductal plate malformation


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly (615630)

Green IFT172 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
  • SRTD10

Green IFT172 in Fetal anomalies


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAINZER-SALDINO SYNDROME
  • JEUNE SYNDROME

Green IFT172 in DDG2P


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
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 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
  • SRTD10

Red IFT172 in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • GH deficiency, retinopathy, metaphyseal dysplasia

Green IFT172 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MAINZER-SALDINO SYNDROME

Green IFT172 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
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 1.0

review BIALLELIC, autosomal or pseudoautosomal
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 Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
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 or chorea or related movement disorder


Version 1.0

review Not set
Sources
  • Expert Review Red
  • London North GLH