Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: BBS12

Green List (high evidence)

BBS12 (Bardet-Biedl syndrome 12)
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 is in 22 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Created: 12 Dec 2019, 7:40 p.m. | Last Modified: 12 Dec 2019, 7:40 p.m.
Panel Version: 1.304

History Filter Activity

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs12 has been classified as Green List (High Evidence).

12 Dec 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BBS12 were changed from to Polydactyly; Bardet Biedl syndrome 12, 615989

12 Dec 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

BBS12 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

BBS12 was created by sleigh