Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: BBS1

No list

BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 24 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is a common feature of the phenotype.
Sources: Expert list
Created: 12 Sep 2020, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 1, MIM#209900

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: BBS1 was added gene: BBS1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS1 were set to 15637713 Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, MIM#209900 Review for gene: BBS1 was set to GREEN gene: BBS1 was marked as current diagnostic