Polydactyly
Gene: IFT172
IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.Created: 8 Oct 2020, 3:56 a.m. | Last Modified: 8 Oct 2020, 3:57 a.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome
Publications
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- None
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Bardet Biedl syndrome
- Skeletal Dysplasia_Fetal
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Skeletal dysplasia
- Fetal anomalies
- Mendeliome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Severe early-onset obesity
- Growth failure
History Filter Activity
21 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFT172 was added gene: IFT172 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT172 was set to Unknown