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STRs in panel
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Limb disorders

Gene: IFT74

Red List (low evidence)

IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.

Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Only 1 case reported plus animal model.
Sources: Expert list
Created: 25 Nov 2019, 10:28 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 list
Phenotypes
  • ?Bardet-Biedl syndrome 20 617119
OMIM
608040
Clinvar variants
Variants in IFT74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 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 Limb disorders. Sources: Expert list 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 Review for gene: IFT74 was set to RED