DLAT

dihydrolipoamide S-acetyltransferase
OMIM: 608770, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green DLAT in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E2 deficiency MIM#245348
Green DLAT in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green
Green DLAT in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DLAT in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber DLAT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM#245348
Green DLAT in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM# 245348 Episodic dystonia (Exercise induced or without clear trigger)
Green DLAT in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pyruvate dehydrogenase E2 deficiency 245348 Dystonia
Red DLAT in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM#245348
Green DLAT in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM# 245348 Tags treatable metabolic