ALDH5A1

aldehyde dehydrogenase 5 family member A1
OMIM: 610045, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ALDH5A1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ALDH5A1 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 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 Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ALDH5A1 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 Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 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 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Green ALDH5A1 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 Succinic semialdehyde dehydrogenase deficiency
Green ALDH5A1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency MIM#271980 disorder of neurotransmitter metabolism
Red ALDH5A1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Red ALDH5A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Green ALDH5A1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 (3)