Possible mitochondrial disorder - nuclear genes
Gene: BTDHi
Could this gene be included in the optic neuropathy panel R41 as it is reported to be related to optic neuropathy, potentially a treatable form of optic neuropathy.
Please find some relevant references below:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750409/
https://pubmed.ncbi.nlm.nih.gov/26358973/
https://pubmed.ncbi.nlm.nih.gov/26203071/
https://pubmed.ncbi.nlm.nih.gov/29025919/
https://pubmed.ncbi.nlm.nih.gov/32235217/
Thank you
Kind regards
Mohamed NassrCreated: 12 Feb 2024, 4:16 p.m. | Last Modified: 12 Feb 2024, 4:16 p.m.
Panel Version: 3.87
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Biotinidase deficiency, 253260
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.
gene: BTD was added gene: BTD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BTD were set to Biotinidase deficiency, 253260