Rare multisystem ciliopathy disorders
Gene: IFT74

IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 11 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 32144365 is the second case for this gene. Taken together there are 2 cases and an animal model. There is enough evidence to support a gene-disease association.
Created: 7 Jan 2021, 10:44 a.m. | Last Modified: 7 Jan 2021, 10:44 a.m.

Panel Version: 1.131

Created: 7 Jan 2021, 10:44 a.m.
Last Modified: 7 Jan 2021, 10:44 a.m.
Panel version: 1.131

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

27486776

Created: 25 Jan 2017, 1:11 p.m.

Panel version: 0.468

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

?Bardet-Biedl syndrome 20, 617119

OMIM

608040

Clinvar variants

Variants in IFT74

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

7 Jan 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IFT74 were set to 27486776

7 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ift74 has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 1