Thoracic dystrophies
Gene: IFT81EnsemblGeneIds (GRCh38): ENSG00000122970
EnsemblGeneIds (GRCh37): ENSG00000122970
OMIM: 605489, Gene2Phenotype
IFT81 is in 6 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment on list classification: In view of two expert green reviews and PMID 27666822 with two unrelated cases of ATD with mutations in this gene, in addition to functional evidence linking this gene with disturbed ciliary architecture, considered green.Created: 30 May 2017, 12:03 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Seems to be four cases reported to date, though diversity in phenotype displayed. Plus in vitro evidence. Expert review green.Created: 30 May 2017, 8:09 a.m.
Comment on publications: PMID:27666822 - two cases reported with Short-rib polydactyly syndromes.Created: 30 May 2017, 7:59 a.m.
Comment on publications: 28460050 - reported for retinal dystrophy, in a patient with no skeletal defects.Created: 30 May 2017, 7:54 a.m.
Comment on list classification: Two variants of unknown significance in OMIM.Created: 30 May 2017, 7:32 a.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
SRPS
Hannah Mitchison (UCL and GOSH)
Phenotypes
SRPS
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Short-Rib Polydactyly Syndrome
- OMIM
- 605489
- Clinvar variants
- Variants in IFT81
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IFT81 were set to Short-Rib Polydactyly Syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT81 were set to 26275418; 28460050; 27666822
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IFT81 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT81 were set to 26275418; 28460050; 27666822
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT81 were set to 26275418; 28460050;27666822
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT81 were set to 26275418;28460050
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT81 were set to 26275418
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Hannah Mitchison (UCL and GOSH)IFT81 was added to Thoracic dystrophiespanel. Sources: Expert Review
Created
Hannah Mitchison (UCL and GOSH)IFT81 was created by hmitchis