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  3. BBS5
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Ataxia - paediatric

Gene: BBS5

Red List (low evidence)
BBS5 (Bardet-Biedl syndrome 5)
EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 25 Jun 2021, 9:25 a.m. | Last Modified: 25 Jun 2021, 9:25 a.m.
Panel Version: 0.8118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434

Publications

Created: 25 Jun 2021, 9:25 a.m.
Last Modified: 25 Jun 2021, 9:25 a.m.
Panel version: Imported from Mendeliome panel version 0.8118

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a common feature reported with this subtype of BBS. One family with linkage to BBS5 (not sequenced) has been reported with ataxia.
Sources: Expert list
Created: 16 Jan 2020, 5:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 5, 615983

Publications

Created: 16 Jan 2020, 5:09 a.m.

Panel version: 0.19

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs5 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: BBS5 was added gene: BBS5 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS5 were set to 15637713 Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 Review for gene: BBS5 was set to RED