Congenital Heart Defect
Gene: IFT74
IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 12 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).
Four of the five individuals had heart defects, including ASD, AVSD, patent ductus arteriosus, double outlet right ventricle, hypoplastic left heart, aortic atresia, and hypoplastic left
ventricle.
Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele.
Sources: LiteratureCreated: 6 Jul 2023, 4:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune syndrome (MONDO:0018770), IFT74-related
Publications
- PMID: 37315079
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Jeune syndrome (MONDO:0018770), IFT74-related
- OMIM
- 608040
- Clinvar variants
- Variants in IFT74
- Penetrance
- None
- Publications
-
- PMID: 37315079
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Severe early-onset obesity
- Bardet Biedl syndrome
History Filter Activity
6 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: ift74 has been classified as Green List (High Evidence).
6 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: ift74 has been classified as Green List (High Evidence).
6 Jul 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)gene: IFT74 was added gene: IFT74 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to PMID: 37315079 Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related