Joubert syndrome and other neurological ciliopathies
Gene: IFT74EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 40, MIM# 619582
Chirag Patel (Genetic Health Queensland)
Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Sources: LiteratureCreated: 15 Jun 2021, 4:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
- PMID: 33531668
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Joubert syndrome 40, MIM# 619582
- OMIM
- 608040
- Clinvar variants
- Variants in IFT74
- Penetrance
- None
- Publications
-
- PMID: 33531668
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, MIM# 619582
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift74 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ift74 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: IFT74 was added gene: IFT74 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to PMID: 33531668 Phenotypes for gene: IFT74 were set to Joubert syndrome Review for gene: IFT74 was set to GREEN