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Ciliopathies

Gene: BBS4

Green List (high evidence)
BBS4 (Bardet-Biedl syndrome 4)
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 10 Oct 2020, 1:35 a.m. | Last Modified: 10 Oct 2020, 1:35 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433

Publications

Created: 10 Oct 2020, 1:35 a.m.
Last Modified: 10 Oct 2020, 1:35 a.m.
Panel version: 0.309

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
  • MONDO:0014433
OMIM
600374
Clinvar variants
Variants in BBS4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs4 has been classified as Green List (High Evidence).

25 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433

25 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BBS4 were set to

25 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BBS4 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: BBS4 was added gene: BBS4 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BBS4 was set to Unknown