Monogenic hearing loss
Gene: BTDEnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 12 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
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- hearing loss
- OMIM
- 609019
- Clinvar variants
- Variants in BTD
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Ketotic hypoglycaemia
- Optic neuropathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)BTD was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory