Monogenic hearing loss
Gene: BBS1EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels
1 review
Jun Shen (Harvard Medical School)
Inheritance:Autosomal recessive;Digenic recessiveCreated: 9 Feb 2016, 10:03 a.m.
Inheritance:Digenic recessive;Autosomal recessiveCreated: 7 Feb 2016, 4:27 p.m.
Inheritance:Autosomal recessive;Digenic recessiveCreated: 7 Feb 2016, 3:35 p.m.
Inheritance:Digenic recessive,Autosomal recessiveCreated: 7 Feb 2016, 9:15 a.m.
Inheritance:Digenic recessiveCreated: 7 Feb 2016, 8:51 a.m.
Inheritance: Digenic recessiveCreated: 7 Feb 2016, 5:58 a.m.
Mode of inheritance
Other
Phenotypes
#209900:Bardet-Biedl syndrome 1[Obesity; Rod-cone dystrophy, onset by end of 2nd decade (major)Retinitis pigmentosaRetinal degenerationStrabismusCataracts; High arched palate; Dental crowdingHypodontiaSmall tooth roots; Hepatic fibrosis (rare); Hirschsprung disease (rare); Hypogonadism (major)Hypogenitalism; Renal anomalies (major); Polydactyly, usually postaxial (major)Brachydactyly; Polydactyly (major); Speech disorderSpeech delayLearning disabilities (major)Developmental delayMental retardationAtaxiaPoor coordination]
Publications
Details
- Sources
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- Expert
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- Complete
- Panels with this gene
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- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)BBS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert