Miscellaneous Metabolic Disorders
Gene: BTD
Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism.
Sources: NHS GMSCreated: 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
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
Tag treatable tag was added to gene: BTD.
Gene: btd has been classified as Green List (High Evidence).
Gene: btd has been classified as Green List (High Evidence).
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