Skeletal ciliopathies

Gene: IFT74

No list

IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 9 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Created: 28 Nov 2019, 3:30 p.m. | Last Modified: 28 Nov 2019, 3:30 p.m.
Panel Version: 0.35

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in one patient although supported by zebrafish model
Created: 25 Jan 2017, 1:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 20 617119

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
curated_removed
OMIM
608040
Clinvar variants
Variants in IFT74
Penetrance
None
Publications
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: IFT74.

28 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ift74 has been removed from the panel.

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: IFT74 was added gene: IFT74 was added to Skeletal ciliopathies. Sources: Other,Expert Review Red Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20, 617119