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  3. AASS
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Childhood onset dystonia, chorea or related movement disorder

Gene: AASS

Amber List (moderate evidence)
AASS (aminoadipate-semialdehyde synthase)
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 7 panels

1 review

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

I don't know

Not much of a movement component
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Amber
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
OMIM
605113
Clinvar variants
Variants in AASS
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AASS were changed from Hyperlysinemia; Saccharopinuria, 268700 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388

7 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: AASS was changed from to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: AASS were changed from to Hyperlysinemia; Saccharopinuria, 268700

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: AASS was added gene: AASS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: AASS was set to