Bardet-Biedl Syndrome

Gene: IFT27

Red List (low evidence)

IFT27 (intraflagellar transport 27)
EnsemblGeneIds (GRCh38): ENSG00000100360
EnsemblGeneIds (GRCh37): ENSG00000100360
OMIM: 615870, Gene2Phenotype
IFT27 is in 4 panels

1 review

Caroline Wright (Genomics England Curator)

Comment on list classification: One consanguineous family in OMIM
17 Dec 2015, 2:18 p.m.
Comment on list classification: 1 family in OMIM
17 Dec 2015, 2:17 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
OMIM
615870
Clinvar variants
Variants in IFT27
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Oct 2015, Gel status: 0

Added New Source

Beth Hoskins (Great Ormond Street Hospital)

IFT27 was added to Bardet-Biedl Syndromepanel. Sources: Literature