1. Panels
  2. Renal Ciliopathies and Nephronophthisis
  3. IFT27
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Renal Ciliopathies and Nephronophthisis

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, 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
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
OMIM
615870
Clinvar variants
Variants in IFT27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jul 2021, 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).

17 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996

17 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT27 were set to

17 Jul 2021, 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT27 was added gene: IFT27 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: IFT27 was set to Unknown