ETHE1

ETHE1, persulfide dioxygenase
OMIM: 608451, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ETHE1 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ethylmalonic encephalopathy, MIM# 602473 Tags treatable
Green ETHE1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ethylmalonic encephalopathy, MIM#602473 Tags treatable
Green ETHE1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green ETHE1 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 Victorian Clinical Genetics Services Tags treatable
Red ETHE1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ethylmalonic encephalopathy , MIM#602473
Green ETHE1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green ETHE1 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 Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green ETHE1 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 Ethylmalonic encephalopathy, 602473 (3)
Green ETHE1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ethylmalonic encephalopathy
Red ETHE1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ethylmalonic encephalopathy, MIM# 602473
Green ETHE1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ethylmalonic encephalopathy, 602473 (3)
Green ETHE1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Ethylmalonic encephalopathy, MIM#602473 Tags treatable metabolic
Green ETHE1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ethylmalonic encephalopathy, 602473 (3)