Polydactyly
Gene: IFT27

IFT27 (intraflagellar transport 27)
EnsemblGeneIds (GRCh38): ENSG00000100360
EnsemblGeneIds (GRCh37): ENSG00000100360
OMIM: 615870, Gene2Phenotype
IFT27 is in 8 panels

2 reviews

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 3:13 a.m.
Last Modified: 21 Jul 2020, 3:13 a.m.
Panel version: 0.36

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families; two with the same variant; functional data.
Sources: Expert list
Created: 11 Jan 2020, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, MIM#615996

Publications

Created: 11 Jan 2020, 1:49 a.m.

Panel version: Imported from Bardet Biedl syndrome panel version 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Victorian Clinical Genetics Services
Expert Review Green

OMIM

615870

Clinvar variants

Variants in IFT27

Penetrance

None

Panels with this gene

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: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance