1. Panels
  2. Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
  3. IFT52
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Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy

Gene: IFT52

Green List (high evidence)
IFT52 (intraflagellar transport 52)
EnsemblGeneIds (GRCh38): ENSG00000101052
EnsemblGeneIds (GRCh37): ENSG00000101052
OMIM: 617094, Gene2Phenotype
IFT52 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families reported.
Created: 4 Jul 2021, 4:20 a.m. | Last Modified: 4 Jul 2021, 4:20 a.m.
Panel Version: 0.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102

Publications

Created: 4 Jul 2021, 4:20 a.m.
Last Modified: 4 Jul 2021, 4:20 a.m.
Panel version: 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
OMIM
617094
Clinvar variants
Variants in IFT52
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift52 has been classified as Green List (High Evidence).

4 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102

4 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT52 were set to

4 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT52 was added gene: IFT52 was added to Short Rib Polydactyly, Jeune Asphyxiating Thoracic Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT52 was set to Unknown