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  3. BBS4
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Ataxia - paediatric

Gene: BBS4

Red List (low evidence)
BBS4 (Bardet-Biedl syndrome 4)
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 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, 8:59 a.m. | Last Modified: 25 Jun 2021, 8:59 a.m.
Panel Version: 0.8115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 25 Jun 2021, 8:59 a.m.
Last Modified: 25 Jun 2021, 8:59 a.m.
Panel version: Imported from Mendeliome panel version 0.8115

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, 5:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 4, 615982

Created: 16 Jan 2020, 5:07 a.m.

Panel version: 0.18

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs4 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: BBS4 was added gene: BBS4 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 Review for gene: BBS4 was set to RED