L2HGDH

L-2-hydroxyglutarate dehydrogenase
OMIM: 609584, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green L2HGDH in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green L2HGDH in Mendeliome Version 1.2302	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792
Green L2HGDH in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes L-2-hydroxyglutaric aciduria MIM#236792
Green L2HGDH in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial metabolite repair L-2-hydroxyglutaric aciduria MONDO:0009370
Green L2HGDH in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green L2HGDH in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green L2HGDH 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 L-2-hydroxyglutaric aciduria, MIM#236792
Green L2HGDH 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 Expert list Phenotypes L-2-hydroxyglutaric aciduria MIM#236792
Green L2HGDH in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes L-2-hydroxyglutaric aciduria, MIM# 236792
Green L2HGDH in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes L-2-hydroxyglutaric aciduria, 236792
Green L2HGDH 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 L-2-hydroxyglutaric aciduria, 236792 (3)
Green L2HGDH in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 organic acidurias
Red L2HGDH in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792
Green L2HGDH in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792
Green L2HGDH in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes L-2-hydroxyglutaric aciduria, 236792 (3)