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Hearing loss

Gene: RARB

Red List (low evidence)

RARB (retinoic acid receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000077092
EnsemblGeneIds (GRCh37): ENSG00000077092
OMIM: 180220, Gene2Phenotype
RARB is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#615524:Microphthalmia, syndromic 12[MicrognathiaRetrognathia; MicrophthalmiaAnophthalmia, clinical; Broad nasal rootBroad nasal tip; Ventricular septal defect (in some patients)Hypoplastic left atrium (in some patients); Enlarged pulmonary trunk (in some patients); Pulmonary hypoplasia; Diaphragmatic hernia; Small spleen; Malrotation of bowel; Cryptorchidism (in some patients); Bicornuate uterus; Mental retardation (rare)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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