PanelApp (staging)
  1. Genes and Genomic Entities
  2. ELAC2

ELAC2

elaC ribonuclease Z 2
OMIM: 605367, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ELAC2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, MIM#615440

Green ELAC2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 17, MIM#615440

    Green ELAC2 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 Green
    • Genetic Health Queensland
    Phenotypes
    • Combined oxidative phosphorylation deficiency 17, MIM#615440

    Green ELAC2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined oxidative phosphorylation deficiency 17, 615440 (3)

    Green ELAC2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 17, MIM# 615440
    • cardiomyopathy
    • hypotonia
    • growth failure
    • dev delay
    • microcephaly
    • sensorineural deafness
    • brain MRI abnormalities

    Green ELAC2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green ELAC2 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Combined oxidative phosphorylation deficiency 17, MIM#615440

    Green ELAC2 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined oxidative phosphorylation deficiency 17, MIM#615440