PanelApp (staging)
  1. Genes and Genomic Entities
  2. DLAT

DLAT

dihydrolipoamide S-acetyltransferase
OMIM: 608770, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DLAT in Mendeliome


Version 1.2302

1 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 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.540

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DLAT in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		0 reviews 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 1.63

    		1 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 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  2 reviews 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 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 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 1.313

    		1 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 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pyruvate dehydrogenase E2 deficiency, MIM# 245348
    Tags
    • treatable
    • metabolic