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| Pyruvate dehydrogenase (PDH) deficiency v1.16 | LIPT1 | Sarah Leigh Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.5 | LIPT2 | Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. 3 patients (2 siblings) reported with biallelic variants in this gene and severe neonatal encephalopathy, with functional evidence supporting a mitochondrial lipoylation defect as well as this protein being in the same pathway as LIPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | LIPT1 | Ivone Leong reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | LIPT1 |
Ivone Leong gene: LIPT1 was added gene: LIPT1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 |
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