Bardet Biedl syndrome

Gene: IFT74

Amber List (moderate evidence)

IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. 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. This gene has been given an Amber rating and should be made Green at the next review.
Created: 7 Jan 2021, 10:42 a.m. | Last Modified: 7 Jan 2021, 10:46 a.m.
Panel Version: 1.9

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 20 617119

Publications

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 Amber
  • NHS GMS
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
for-review
OMIM
608040
Clinvar variants
Variants in IFT74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IFT74 were set to 27486776

7 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ift74 has been classified as Amber List (Moderate Evidence).

7 Jan 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: IFT74.

15 Mar 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IFT74. Added phenotypes ?Bardet-Biedl syndrome 20, 617119 for gene: IFT74

19 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: IFT74 was added gene: IFT74 was added to Bardet Biedl syndrome. Sources: 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