GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: IFT52

IFT52 (intraflagellar transport 52)
EnsemblGeneIds (GRCh38): ENSG00000101052
EnsemblGeneIds (GRCh37): ENSG00000101052
OMIM: 617094, Gene2Phenotype
IFT52 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

other forms of short-rib dysplasia are listed in Cilliopathies with major skeletal involvement gp of SDs. Only 2 cases reported?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102

OMIM

617094

Clinvar variants

Variants in IFT52

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: IFT52 was added gene: IFT52 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT52 were set to SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: IFT52