Thoracic dystrophies
Gene: IFT122
IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two green reviews, and 3 families/cases reported. Is green on the Rare multisystem ciliopathy disorders Version 1.26 and Unexplained skeletal dysplasia Version 1.33 gene panels.Created: 26 May 2017, 12:18 p.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
CED
Hannah Mitchison (UCL and GOSH)
Phenotypes
CED
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- CED
- OMIM
- 606045
- Clinvar variants
- Variants in IFT122
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ductal plate malformation
- Skeletal ciliopathies
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
26 May 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 May 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IFT122 was changed to BIALLELIC, autosomal or pseudoautosomal
26 May 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 May 2017, Gel status: 0
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT122 were set to 20493458
25 May 2017, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
25 May 2017, Gel status: 0
Added New Source
Hannah Mitchison (UCL and GOSH)IFT122 was added to Thoracic dystrophiespanel. Sources: Expert Review
25 May 2017, Gel status: 0
Created
Hannah Mitchison (UCL and GOSH)IFT122 was created by hmitchis