ABAT

4-aminobutyrate aminotransferase
OMIM: 137150, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red ABAT in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM# 613163
Green ABAT in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM# 613163 mtDNA depletion syndrome (MDS)
Green ABAT in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM# 613163
Green ABAT 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 Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes GABA-transaminase deficiency, MIM#613163
Green ABAT in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes mtDNA depletion syndrome (MDS)
Red ABAT in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM#613163
Green ABAT 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 GABA-transaminase deficiency, MIM#613163
Amber ABAT in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes GABA-transaminase deficiency, MIM# 613163 intellectual disability autism DEE epilepsy paroxysmal dyskinesia
Green ABAT 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 GABA-transaminase deficiency, 613163 (3)
Red ABAT in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes GABA-transaminase deficiency
Green ABAT in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GABA-transaminase deficiency, 613163 (3)
Red ABAT in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes GABA-transaminase deficiency