This Panel is marked as Retired
Bardet-Biedl Syndrome
Gene: IFT27
IFT27 (intraflagellar transport 27)
EnsemblGeneIds (GRCh38): ENSG00000100360
EnsemblGeneIds (GRCh37): ENSG00000100360
OMIM: 615870, Gene2Phenotype
IFT27 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000100360
EnsemblGeneIds (GRCh37): ENSG00000100360
OMIM: 615870, Gene2Phenotype
IFT27 is in 10 panels
1 review
Caroline Wright (Genomics England Curator)
Comment on list classification: One consanguineous family in OMIMCreated: 17 Dec 2015, 2:18 p.m.
Comment on list classification: 1 family in OMIMCreated: 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