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Hearing loss

Gene: BBS1

Red List (low evidence)

BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 23 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:Autosomal recessive;Digenic recessive
Created: 9 Feb 2016, 10:03 a.m.
Inheritance:Digenic recessive;Autosomal recessive
Created: 7 Feb 2016, 4:27 p.m.
Inheritance:Autosomal recessive;Digenic recessive
Created: 7 Feb 2016, 3:35 p.m.
Inheritance:Digenic recessive,Autosomal recessive
Created: 7 Feb 2016, 9:15 a.m.
Inheritance:Digenic recessive
Created: 7 Feb 2016, 8:51 a.m.
Inheritance: Digenic recessive
Created: 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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert