ALDH18A1

aldehyde dehydrogenase 18 family member A1
OMIM: 138250
PanelMode of inheritanceDetails
9 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal dominant 3 OMIM:616603, cutis laxa, autosomal dominant 3 MONDO:0014706, Cutis laxa, autosomal recessive, type IIIA OMIM:219150, ALDH18A1-related de Barsy syndrome MONDO:0009053, Spastic paraplegia 9A, autosomal dominant OMIM:601162, hereditary spastic paraplegia 9A MONDO:0011006, Spastic paraplegia 9B, autosomal recessive OMIM:616586, autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal dominant 3 OMIM:616603, cutis laxa, autosomal dominant 3 MONDO:0014706, Cutis laxa, autosomal recessive, type IIIA OMIM:219150, ALDH18A1-related de Barsy syndromeMONDO:0009053, Spastic paraplegia 9A, autosomal dominant OMIM:601162, hereditary spastic paraplegia 9A MONDO:0011006, Spastic paraplegia 9B, autosomal recessive OMIM:616586, autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603, MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652
R-numbers: R101
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIIA, 219150, Cutis laxa, autosomal dominant 3, 616603
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES
R-numbers: R60
Signed-off version 1.27
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 9B, autosomal recessive 616586, SPG9, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Cutis laxa, autosomal dominant 3 616603, Spastic paraplegia 9A, autosomal dominant 601162, Cutis laxa, autosomal recessive, type IIIA 219150
R-numbers: R61
Signed-off version 2.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 9B, autosomal recessive, 616586, SPG9, Spastic paraplegia 9A, autosomal dominant, 601162, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism), Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIIA, 219150, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9