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  2. Ductal plate malformation
  3. IFT52
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Ductal plate malformation

Gene: IFT52

No list
IFT52 (intraflagellar transport 52)
EnsemblGeneIds (GRCh38): ENSG00000101052
EnsemblGeneIds (GRCh37): ENSG00000101052
OMIM: 617094, Gene2Phenotype
IFT52 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
  • Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Tags
curated_removed
OMIM
617094
Clinvar variants
Variants in IFT52
Penetrance
None
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: IFT52.

29 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly (617102) to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: New gene name is CPLANE

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to IFT52. Rating Changed from Red List (low evidence) to No List (delete)

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: IFT52 was added gene: IFT52 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen 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 (617102)