Bardet-Biedl Syndrome

Gene: BBS5

Green List (high evidence)

BBS5 (Bardet-Biedl syndrome 5)
EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 19 panels

1 review

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

1 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BBS5 were set to PMID: 15137946

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BBS5 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS5 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

BBS5 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BBS5 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BBS5 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen