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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 15 panels

1 review

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: 0.48

History Filter Activity

8 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989

8 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS12 were set to

8 Oct 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 Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BBS12 was set to Unknown