ALDH18A1

aldehyde dehydrogenase 18 family member A1
OMIM: 138250, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green ALDH18A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal dominant 3 (MIM# 616603) Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)
Green ALDH18A1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ALDH18A1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism
Green ALDH18A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586
Green ALDH18A1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Green ALDH18A1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Green ALDH18A1 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities
Green ALDH18A1 in Cutis Laxa Level 2: Dermatological disorders Version 1.0	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature GeneReviews Phenotypes Cutis laxa, autosomal dominant 3 (MIM# 616603) Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)
Green ALDH18A1 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 Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Green ALDH18A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIIA
Green ALDH18A1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism
Green ALDH18A1 in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Green ALDH18A1 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa, autosomal dominant 3, MIM# 616603 Cutis laxa, autosomal recessive, type IIIA, MIM# 219150
Green ALDH18A1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Green ALDH18A1 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes P5CS deficiency MONDO:0100126
Red ALDH18A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism
Green ALDH18A1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 9B, autosomal recessive, 616586 (3)