Mitochondrial disorders
Gene: BTD
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
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.
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.
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.
Tag Q3_23_expert_review tag was added to gene: BTD.
Phenotypes for gene: BTD were changed from Biotinidase deficiency to Biotinidase deficiency, OMIM:253260; biotinidase deficiency, MONDO:0009665
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
BTD was created by ellenmcdonagh
BTD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review