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Hearing loss

Gene: BBS4

Red List (low evidence)

BBS4 (Bardet-Biedl syndrome 4)
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 24 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#615982:Bardet-Biedl syndrome 4[Obesity; Retinal degenerationRetinitis pigmentosaNight blindness; Impaired olfaction (in some patients); Dental abnormalities (in some patients); CryptorchidismHypogenitalismHypogonadism; Renal cystsRenal anomalies; PolydactylyBrachydactylySyndactyly; Polydactyly; Mental retardation (in some patients)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert