Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Gene: IFT74EnsemblGeneIds (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).
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, 4:07 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
-
- 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
- Skeletal Dysplasia_Fetal
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Skeletal dysplasia
- Fetal anomalies
- Congenital Heart Defect
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: ift74 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: ift74 has been removed from the panel.
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 Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. 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 Review for gene: IFT74 was set to GREEN