ALDH18A1

aldehyde dehydrogenase 18 family member A1
OMIM: 138250, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green ALDH18A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 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 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green ALDH18A1 in Mendeliome Version 2.0	1 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 2.0	1 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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 2.0	1 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 1.0	0 reviews	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 1.0	0 reviews	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 2.0	1 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 1.0	1 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 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IIIA (MIM#219150) Spastic paraplegia 9B, autosomal recessive (MIM#616586)
Green ALDH18A1 in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes P5CS deficiency MONDO:0100126
Red ALDH18A1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IIIA (MIM#219150) Spastic paraplegia 9B, autosomal recessive (MIM#616586)