Childhood onset dystonia, chorea or related movement disorder
Gene: ALDH18A1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Based on review by Zornitza Stark and the opinion of Helen Brittain (Genomics England Clinical Fellow), the Q2_21_phenotype & Q2_21_expert_review tags have been added, in order to request the opinion of the TEWG regarding the relevance of phenotype associated with variants in ALDH18A1 for this panel (Childhood onset dystonia or chorea or related movement disorder).Created: 29 Jun 2021, 3:04 p.m. | Last Modified: 29 Jun 2021, 3:05 p.m.
Panel Version: 1.131
Clinical presentation is predominantly that of spastic paraplegia.Created: 5 Sep 2020, 3:40 a.m. | Last Modified: 5 Sep 2020, 3:40 a.m.
Panel Version: 1.49
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Spastic paraplegia 9A, autosomal dominant, MIM# 601162
Comment on phenotypes: From OMIMCreated: 6 Dec 2019, 5:33 p.m. | Last Modified: 6 Dec 2019, 5:33 p.m.
Panel Version: 0.31
Comment on mode of inheritance: Sourced from OMIMCreated: 6 Dec 2019, 5:32 p.m. | Last Modified: 6 Dec 2019, 5:32 p.m.
Panel Version: 0.30
Tag Q2_21_phenotype was removed from gene: ALDH18A1. Tag Q2_21_expert_review was removed from gene: ALDH18A1.
Tag Q2_21_expert_review tag was added to gene: ALDH18A1.
Phenotypes for gene: ALDH18A1 were changed from 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 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 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
Tag Q2_21_phenotype tag was added to gene: ALDH18A1.
Phenotypes for gene: ALDH18A1 were changed from to 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
Mode of inheritance for gene: ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: ALDH18A1 was added gene: ALDH18A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to