| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Optic neuropathy v4.30 | BTD | Achchuthan Shanmugasundram Phenotypes for gene: BTD were changed from Biotinidase deficiency, OMIM:253260 to Biotinidase deficiency, OMIM:253260; optic atrophy, MONDO:0003608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.29 | BTD | Achchuthan Shanmugasundram edited their review of gene: BTD: Changed phenotypes to: Biotinidase deficiency, OMIM:253260, optic atrophy, MONDO:0003608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.29 | BTD | Achchuthan Shanmugasundram Classified gene: BTD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.29 | BTD | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.29 | BTD | Achchuthan Shanmugasundram Gene: btd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.28 | BTD | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: BTD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.28 | BTD |
Achchuthan Shanmugasundram gene: BTD was added gene: BTD was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 26203071; 29025919; 32235217; 33364171 Phenotypes for gene: BTD were set to Biotinidase deficiency, OMIM:253260 Review for gene: BTD was set to GREEN Added comment: PMID:26203071 - A 22-year-old man presented with a disabling extensive myelopathy and bilateral optic neuropathy which mimicked the findings of a (seronegative) neuromyelitis optica. A novel homozygous BTD variant (p.Ala439Asp) and a known variant (c.1413T>C/ p.Cys471Cys) were identified in this patient. PMID:29025919 - Two unrelated individuals with adult-onset biotinidase deficiency had severe, but reversible optic neuropathy. They were identified with compound heterozygous variants (patient 1: p.Phe232Cys/ p.Leu440Pro; patient 2: p.Gln456His/ p.Arg538Cys). PMID:32235217 - A 49-year-old man was reported with progressive optic atrophy, peripheral neuropathy, and systemic weakness and fatigue due to biotinidase deficiency. This patient was reported with compound heterozygous variants (p.Ala171Thr/ p.Asp444His) PMID:33364171 - Two adult brothers were reported with biallelic BTD variants. Both of them presented with lower limb neuropathy and one had progressive optic neuropathy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||