Skeletal Dysplasia_Fetal
Gene: IFT80
IFT80 (intraflagellar transport 80)
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000068885
EnsemblGeneIds (GRCh37): ENSG00000068885
OMIM: 611177, Gene2Phenotype
IFT80 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
5 unrelated families reported.Created: 4 Jul 2021, 5:15 a.m. | Last Modified: 4 Jul 2021, 5:15 a.m.
Panel Version: 0.89
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 611177
- Clinvar variants
- Variants in IFT80
- Penetrance
- None
- Panels with this gene
-
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFT80 was added gene: IFT80 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT80 was set to Unknown