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  3. BBS2
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Ataxia - paediatric

Gene: BBS2

Red List (low evidence)
BBS2 (Bardet-Biedl syndrome 2)
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Limited number of families also reported with isolated RP.
Created: 9 Oct 2020, 11:24 a.m. | Last Modified: 25 Jun 2021, 7:55 a.m.
Panel Version: 0.306

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562

Publications

Created: 9 Oct 2020, 11:24 a.m.
Last Modified: 25 Jun 2021, 7:55 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.306

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported common feature of this subtype of BBS. Ataxia may be present in one family with BBS2, but not stated outright in the publication (18/21 families had ataxia and there was only one BBS2 family).
Sources: Expert list
Created: 16 Jan 2020, 5:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 2, 615981

Publications

Created: 16 Jan 2020, 5:04 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, 615981
OMIM
606151
Clinvar variants
Variants in BBS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs2 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BBS2 was added gene: BBS2 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS2 were set to 15637713 Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 Review for gene: BBS2 was set to RED