Mitochondrial disorders
Gene: BTDEnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 12 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:51 p.m. | Last Modified: 26 Sep 2024, 3:51 p.m.
Panel Version: 7.3
Sarah Leigh (Genomics England Curator)
Zornitza Stark has rated BTD red on this panel (Mitochondrial disorders) and has requested that the association between BTD variants and mitochondrial disease could be reviewed. This panel is overseen by the NHS mitochondrial specialist teams, their opinion on this issue is being sought.Created: 25 Jul 2023, 1:57 p.m. | Last Modified: 25 Jul 2023, 1:57 p.m.
Panel Version: 4.57
Zornitza Stark (Australian Genomics)
Can we please review the link to mitochondrial disease?Created: 18 Mar 2020, 6:49 a.m. | Last Modified: 18 Mar 2020, 6:49 a.m.
Panel Version: 2.5
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
-
- Expert Review Amber
- NHS GMS
- Expert Review
- Phenotypes
-
- Biotinidase deficiency, OMIM:253260
- biotinidase deficiency, MONDO:0009665
- OMIM
- 609019
- Clinvar variants
- Variants in BTD
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
- Ketotic hypoglycaemia
- Optic neuropathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_demote_amber was removed from gene: BTD. Tag Q2_24_expert_review was removed from gene: BTD.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to BTD. Source Expert Review Amber was added to BTD. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_expert_review was removed from gene: BTD. Tag Q2_24_demote_amber tag was added to gene: BTD. Tag Q2_24_expert_review tag was added to gene: BTD.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_expert_review tag was added to gene: BTD.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: BTD were changed from Biotinidase deficiency to Biotinidase deficiency, OMIM:253260; biotinidase deficiency, MONDO:0009665
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)BTD was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BTD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review