Skeletal ciliopathies
Gene: IFT80
IFT80 (intraflagellar transport 80)
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 13 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: At least four identified families. Offered on GOS ciliopathy panel. Recognised on G2PCreated: 19 Jan 2017, 2:54 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Emory Genetics Laboratory
- Phenotypes
-
- Short-rib thoracic dysplasia 2 with or without polydactyly
- Jeune syndrome
- Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
- OMIM
- 611177
- Clinvar variants
- Variants in IFT80
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Ductal plate malformation
- Skeletal ciliopathies
- DDG2P
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Thoracic dystrophies
- Primary ciliary disorders
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IFT80 was added gene: IFT80 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 2 with or without polydactyly, 611263