BTD
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BTD (HGNC:1122) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
biotinidase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
76.15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.22(Read more about gnomAD LOEUF score)
Cytoband
3p25.1
Genomic Coordinates
GRCh37/hg19: chr3:15642859-15764023 NCBI Ensembl UCSC
GRCh38/hg38: chr3:15601361-15722516 NCBI Ensembl UCSC
MANE Select Transcript
NM_001370658.1 ENST00000643237.3 (Read more about MANE Select)
Function
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. {ECO:0000305|PubMed:9099842, ECO:0000305|PubMed:9654207}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32722
ClinGen Curation ID:
CCID:006766
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/21/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in BTD have been identified in individuals with biotinidase deficiency, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)