Polydactyly
Gene: BBS12

BBS12 (Bardet-Biedl syndrome 12)
EnsemblGeneIds (GRCh38): ENSG00000181004
EnsemblGeneIds (GRCh37): ENSG00000181004
OMIM: 610683, Gene2Phenotype
BBS12 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 8 Oct 2020, 3:52 a.m. | Last Modified: 8 Oct 2020, 3:52 a.m.

Panel Version: 0.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 12, MIM# 615989

Publications

Created: 8 Oct 2020, 3:52 a.m.
Last Modified: 8 Oct 2020, 3:52 a.m.
Panel version: Imported from Bardet Biedl syndrome panel version 0.48

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 2:50 a.m.
Last Modified: 21 Jul 2020, 2:50 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Expert Review Green
Victorian Clinical Genetics Services

OMIM

610683

Clinvar variants

Variants in BBS12

Penetrance

None

Panels with this gene

History Filter Activity

21 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BBS12 was added gene: BBS12 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BBS12 was set to Unknown

Polydactyly Gene: BBS12