Rare multisystem ciliopathy disorders
Gene: IFT80EnsemblGeneIds (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
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
- Jeune syndrome
- Short-rib thoracic dysplasia 2 with or without polydactyly
- OMIM
- 611177
- Clinvar variants
- Variants in IFT80
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Skeletal ciliopathies
- Clefting
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Ductal plate malformation
- Limb disorders
- Intellectual disability
- DDG2P
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)IFT80 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)IFT80 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT80 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT80 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT80 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263
Added New Source
Ellen McDonagh (Genomics England Curator)IFT80 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)IFT80 was created by ellenmcdonagh