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  3. BBS7
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Ataxia - paediatric

Gene: BBS7

Red List (low evidence)
BBS7 (Bardet-Biedl syndrome 7)
EnsemblGeneIds (GRCh38): ENSG00000138686
EnsemblGeneIds (GRCh37): ENSG00000138686
OMIM: 607590, Gene2Phenotype
BBS7 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 26 Jun 2021, 2:55 a.m. | Last Modified: 26 Jun 2021, 2:55 a.m.
Panel Version: 0.8121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435

Publications

Created: 26 Jun 2021, 2:55 a.m.
Last Modified: 26 Jun 2021, 2:55 a.m.
Panel version: Imported from Mendeliome panel version 0.8121

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Created: 16 Jan 2020, 5:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 7, 615984

Created: 16 Jan 2020, 5:11 a.m.

Panel version: 0.20

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs7 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BBS7 was added gene: BBS7 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 Review for gene: BBS7 was set to RED