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Limb disorders

Gene: BBS1

No list

BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:38 p.m.
Comment when marking as ready: Marked as read after reviewing available evidence
Created: 16 Oct 2018, 3:18 p.m.
Note: is green on the Rare multisystem ciliopathy disorders panel.
Created: 16 Oct 2018, 3:18 p.m.
Comment on mode of inheritance: Also reported as Digenic recessive in OMIM
Created: 3 Oct 2018, 3:43 p.m.
Comment on list classification: More than 3 cases/families reported of variants in this gene in individuals with Bardet-Biedl syndrome 1.
Created: 3 Oct 2018, 2:27 p.m.
In OMIM BBS1 is associated with Bardet-Biedl syndrome 1. Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism. BBS1 is 1 of 7 BBS proteins that form the stable core of a protein complex required for ciliogenesis.

There are several reports of individuals with variants in BBS1 who have Bardet-Biedl syndrome (PMID: 12118255; 12567324;12677556;12524598;23143442).

Beales et al (2003) (PMID: 12677556) report that analyses of 259 independent families segregating a BBS phenotype indicate that BBS1 participates in complex inheritance and that, in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype. They identified homozygous M390R alleles, the most frequent BBS1 mutation, in asymptomatic individuals in two families. An asymptomatic individual homozygous for p.M390R was also reported by Estrada-Cuzcano (2012) (PMID: 23143442). Other reports from Katsanis et al (2001)(PMID: 11567139) and Badano et al. (2003) (PMID: 12567324) also suggest that Bardet-Biedl syndrome is a complex interplay between multiple genetic factors.



Created: 3 Oct 2018, 2:25 p.m.

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: In OMIM BBS1 is associated wit

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to BBS1. Rating Changed from Green List (high evidence) to No List (delete)

16 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs1 has been classified as Green List (High Evidence).

3 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BBS1 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 1209900

3 Oct 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BBS1 were set to

3 Oct 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs1 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BBS1 was created by Ellen McDonagh