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Childhood onset dystonia, chorea or related movement disorder

Gene: ALDH18A1

Green List (high evidence)
ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The 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
Created: 29 Jun 2021, 3:04 p.m.
Last Modified: 29 Jun 2021, 3:05 p.m.
Panel version: 1.217

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Created: 5 Sep 2020, 3:40 a.m.
Last Modified: 5 Sep 2020, 3:40 a.m.
Panel version: 1.49

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: From OMIM
Created: 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 OMIM
Created: 6 Dec 2019, 5:32 p.m. | Last Modified: 6 Dec 2019, 5:32 p.m.
Panel Version: 0.30
Created: 6 Dec 2019, 5:32 p.m.
Last Modified: 6 Dec 2019, 5:32 p.m.
Panel version: 0.30

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
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
OMIM
138250
Clinvar variants
Variants in ALDH18A1
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: ALDH18A1. Tag Q2_21_expert_review was removed from gene: ALDH18A1.

29 Jun 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: ALDH18A1.

30 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

30 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: ALDH18A1.

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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