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| Prepair 1000+ v1.1568 | DLAT |
Andrew Coventry gene: DLAT was added gene: DLAT was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLAT were set to 34138529; 16049940; 20022530; 29093066 Phenotypes for gene: DLAT were set to Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348 Review for gene: DLAT was set to GREEN Added comment: Clinical presentation is in infancy. Pyruvate dehydrogenase E2 deficiency is a mitochondrial disorder, mostly affects the brain and leads to decreased ATP production and energy deficit. Can manifest as a syndrome of neurologic signs (congenital microcephaly, hypotonia, epilepsy, and/or ataxia), brain impacts (dysgenesis of the corpus callosum, Leigh syndrome) and metabolic abnormalities (increased plasma pyruvate, lactic acidemia, and/or metabolic acidosis). Biochemical function, expression data, and model systems available. 1-4% of total PDE2D cases are due to variants in DLAT - associated with phenotype w/survival into childhood/adulthood, milder than other genes involved with condition. PMID: 16049940 - 2 unrelated patients with Episodic dystonia. Hypotonia and ataxia, being less prominent. Neuroradiological evidence of discrete lesions restricted to the globus pallidus, Male patient 1 - dystonic movements of the facial muscles and of his hands and feet.Developmental delay (12 words at age 4). Treatment has improved condition. Male patient 2 - presented at 11 months of age with episodic dystonia (up to 3hrs duration). 8 years of age, developmental delay, cannot walk. PMID: 29093066 - 2 siblings (both homozygous for c.470T>G; p.Val157Gly). Male sibling reported with intellectual disability and exercise-induced gait abnormalities. IQ of 44 at 8 years of age. Female sibling noted to have global delays with intellectual disability. PMID: 20022530 - two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency. At least 6 cases, in 4 unrelated families as described in publications above. While reportedly milder than other presentations, appears severe presentation in absence of treatment. Other genes currently included: PDHA1, PDHB, PDP1. Sources: Literature |
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| Prepair 1000+ v1.1214 | PDHB | Zornitza Stark Marked gene: PDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1214 | PDHB | Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1214 | PDHB | Zornitza Stark Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1213 | PDHB | Zornitza Stark Publications for gene: PDHB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.978 | PDHB | Kate Scarff reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15138885, 18164639, 26865159, 19924563, 34138529; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, MIM #614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PDHB | Seb Lunke Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) for gene: PDHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) |
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