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  3. BTD
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Additional findings_Adult

Gene: BTD

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Included in ACMG SF V3.0, clinical presentation can be in adulthood, features can be non-specific, highly effective treatment available.
Sources: Expert list
Created: 26 May 2021, 8:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Biotinidase deficiency, MIM# 253260

Publications

Created: 26 May 2021, 8:20 a.m.

Panel version: 0.137

Details

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

History Filter Activity

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BTD was added gene: BTD was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 34012068 Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM# 253260 Review for gene: BTD was set to GREEN