Bardet-Biedl Syndrome

Gene: BBS12

Green List (high evidence)

BBS12 (Bardet-Biedl syndrome 12)
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 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 BBS12 were set to PMID: 17160889

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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS12 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

BBS12 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

BBS12 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BBS12 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BBS12 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen