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Bardet-Biedl Syndrome

Gene: BBS1

Green List (high evidence)
BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels

1 review

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
268000

Publications

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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet‐Biedl syndrome 1
  • Bardet‐Biedl syndrome 13
  • Bardet‐Biedl syndrome 11
  • 268000
OMIM
209901
Clinvar variants
Variants in BBS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BBS1 were set to Bardet‐Biedl syndrome 1; Bardet‐Biedl syndrome 13; Bardet‐Biedl syndrome 11; 268000

1 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BBS1 were set to PMID: 12118255; 23143442

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)

BBS1 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

BBS1 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

BBS1 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BBS1 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BBS1 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen