D2HGDH

D-2-hydroxyglutarate dehydrogenase
OMIM: 609186, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green D2HGDH 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 D2HGDH in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721
Green D2HGDH 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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721
Green D2HGDH in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721
Green D2HGDH in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green D2HGDH 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 D-2-hydroxyglutaric aciduria MIM#600721
Green D2HGDH in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes L2-Hydroxyglutaric aciduria
Green D2HGDH 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 D-2-hydroxyglutaric aciduria, 600721 (3)
Green D2HGDH in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria
Green D2HGDH in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes D-2-hydroxyglutaric aciduria, MIM# 600721
Green D2HGDH in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-2-hydroxyglutaric aciduria, MIM#600721
Red D2HGDH in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes D-2-hydroxyglutaric aciduria MIM#600721
Green D2HGDH in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-2-hydroxyglutaric aciduria, 600721 (3)