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Hearing loss

Gene: BTD

Red List (low evidence)

BTD (biotinidase)
EnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#253260:Biotinidase deficiency[Hearing loss, sensorineural; ConjunctivitisOptic atrophyVision loss; TachypneaApneaBreathing problems; Hepatomegaly; Splenomegaly; Feeding difficultiesVomitingDiarrhea; Skin rashSeborrheic dermatitisSkin infections; Alopecia; SeizuresHypotoniaAtaxiaDevelopmental delayDiffuse cerebral atrophyDiffuse cerebellar atrophyLethargy; Metabolic ketoacidosisOrganic aciduria; Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)Mild hyperammonemiaBiotinidase deficiency]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BTD was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory