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  2. Ductal plate malformation
  3. IFT80
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Ductal plate malformation

Gene: IFT80

No list
IFT80 (intraflagellar transport 80)
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 13 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 2 with or without polydactyly (611263)
Tags
curated_removed
OMIM
611177
Clinvar variants
Variants in IFT80
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: IFT80.

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 IFT80. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2018, Gel status: 3

Added New Source, Added New Source, Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Radboud University Medical Center, Nijmegen was added to IFT80. Source Emory Genetics Laboratory was added to IFT80. Source UKGTN was added to IFT80. Source Expert list was added to IFT80. Rating Changed from No List (delete) to Green List (high evidence)

6 Nov 2018, Gel status: 0

Clear Sources

Ivone Leong (Genomics England Curator)

All sources for gene: IFT80 were removed

6 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: IFT80 was added gene: IFT80 was added to Ductal plate malformation (DPM). Sources: Expert list,UKTGN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly (611263)