SUCLA2

succinate-CoA ligase ADP-forming beta subunit
OMIM: 603921, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SUCLA2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Green SUCLA2 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 Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Green SUCLA2 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
Green SUCLA2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SUCLA2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Green SUCLA2 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 Expert list Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM #612073
Green SUCLA2 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 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Dystonia
Green SUCLA2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Amber SUCLA2 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791 MIM#612073) ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Green SUCLA2 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Green SUCLA2 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 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Green SUCLA2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
Green SUCLA2 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073
Green SUCLA2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Red SUCLA2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791