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Fetal anomalies

Gene: IFT74

Green List (high evidence)

IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 12 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with both Joubert and Bardet-Biedl syndrome phenotype - multiple congenital anomalies reported.
Sources: Literature
Created: 3 Mar 2022, 4:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582

Publications

History Filter Activity

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT74 were changed from ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582 to Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: IFT74 was added gene: IFT74 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 33531668; 27486776; 32144365 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582 Review for gene: IFT74 was set to GREEN