Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R60 Signed-off version 5.0 | 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: R31 Signed-off version 5.0 | 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 5.0 | 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 |
R-numbers: R61 Signed-off version 6.0 | 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 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | 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 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cutis laxa, autosomal recessive, type IIIA, OMIM:219150, Cutis laxa, autosomal dominant 3, OMIM:616603 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | 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 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | 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 |