Likely inborn error of metabolism - targeted testing not possible
Gene: ALDH18A1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
The mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as reduced levels of proline, ornithine, arginine, and citrulline have been reported in cases with both monoallelic and biallelic ALDH18A1 variants (PMIDs 11092761; 22170564; 26320891).Created: 2 Jul 2021, 9:26 a.m. | Last Modified: 2 Jul 2021, 9:26 a.m.
Panel Version: 2.147
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Cutis laxa, autosomal dominant 3 616603, Spastic paraplegia 9A, autosomal dominant 601162 and MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES. At least 16 variants reported.Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586
Publications
Tag Q3_21_MOI was removed from gene: ALDH18A1.
Mode of inheritance for gene ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were changed from 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 to 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
Publications for gene: ALDH18A1 were set to 27604308; 24816252; 29903433
Tag Q3_21_MOI tag was added to gene: ALDH18A1.
Publications for gene: ALDH18A1 were set to 27604308; 24816252
Source NHS GMS was added to ALDH18A1. Source London North GLH was added to ALDH18A1.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ALDH18A1 was added gene: ALDH18A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 27604308; 24816252 Phenotypes for gene: ALDH18A1 were set to 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