Polydactyly

Gene: IFT172

Green List (high evidence)

IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

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