Thoracic dystrophies
Gene: IFT52EnsemblGeneIds (GRCh38): ENSG00000101052
EnsemblGeneIds (GRCh37): ENSG00000101052
OMIM: 617094, Gene2Phenotype
IFT52 is in 9 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two cases, and green expert review.Created: 30 May 2017, 7:30 a.m.
Comment on publications: PMID: 27466190 - compound heterozygosity for mutations in IFT52 was identified in a case of short-rib polydactyly syndrome.Created: 30 May 2017, 7:26 a.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
SRPS
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Only two unrelated cases but two expert reviews green and a relevant phenotype. On balance, considered as sufficient for inclusion.Created: 30 May 2017, 11:49 a.m.
Only two cases identified to date. There is evidence of IFT52 role in transport regarding cilia howeverCreated: 25 May 2017, 12:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Hannah Mitchison (UCL and GOSH)
Phenotypes
SRPS
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
- OMIM
- 617094
- Clinvar variants
- Variants in IFT52
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IFT52 were changed from SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
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).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IFT52 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT52 were set to 27466190; 26880018
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT52 were set to 27466190
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Hannah Mitchison (UCL and GOSH)IFT52 was created by hmitchis
Added New Source
Hannah Mitchison (UCL and GOSH)IFT52 was added to Thoracic dystrophiespanel. Sources: Expert Review