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Inborn errors of metabolism

Gene: BTD

Green List (high evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Definitely a green gene for a metabolic disorder, but link to mitochondrial disease?
Created: 27 Aug 2018, 9:50 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Suggested by reviewer Shamima Rahman (UCL Institute of Child Health) and is a confirmed DD gene for Biotinidase deficiency.
Created: 2 Mar 2016, 2:37 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency (Disorders of biotin metabolism)
  • Biotinidase deficiency
  • lactic acidosis with seizures and eczema,immune deficiency
OMIM
609019
Clinvar variants
Variants in BTD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BTD. Source London North GLH was added to BTD.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Biotinidase deficiency for gene: BTD

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: BTD was added gene: BTD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 27604308 Phenotypes for gene: BTD were set to Biotinidase deficiency (Disorders of biotin metabolism); Biotinidase deficiency; lactic acidosis with seizures and eczema,immune deficiency