ELAC2

elaC ribonuclease Z 2
OMIM: 605367, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ELAC2 in Mendeliome Version 1.1902	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 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	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 0.6063	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	review	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 0.192	review	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	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green ELAC2 in Fetal anomalies Version 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 17, 615440 (3)