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  3. BTD
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Miscellaneous Metabolic Disorders

Gene: BTD

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism.
Sources: NHS GMS
Created: 1 Feb 2021, 6:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biotinidase deficiency MIM#253260; disorder of biotin metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Feb 2021, 6:55 a.m.

Panel version: 0.99

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established disease gene. Biotinidase deficiency can be identified during newborn screening (PMID:12359137).
Created: 17 Mar 2020, 4:26 a.m. | Last Modified: 17 Mar 2020, 4:26 a.m.
Panel Version: 0.1714

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biotinidase deficiency, MIM 253260

Publications

Created: 17 Mar 2020, 4:26 a.m.
Last Modified: 17 Mar 2020, 4:26 a.m.
Panel version: Imported from Mendeliome panel version 0.1714

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Biotinidase deficiency MIM#253260
  • disorder of biotin metabolism
Tags
treatable
OMIM
609019
Clinvar variants
Variants in BTD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: BTD.

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: btd has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: btd has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BTD was added gene: BTD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 7550325 Phenotypes for gene: BTD were set to Biotinidase deficiency MIM#253260; disorder of biotin metabolism Review for gene: BTD was set to GREEN gene: BTD was marked as current diagnostic