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  3. IFT27
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Ciliopathies

Gene: IFT27

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

1 review

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, 6:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, MIM#615996

Publications

Created: 11 Jan 2020, 6:09 a.m.

Panel version: 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
OMIM
615870
Clinvar variants
Variants in IFT27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift27 has been classified as Green List (High Evidence).

11 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift27 has been classified as Green List (High Evidence).

11 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT27 was added gene: IFT27 was added to Ciliopathies_VCGS. Sources: Expert list Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996 Review for gene: IFT27 was set to GREEN