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Childhood onset dystonia, chorea or related movement disorder

Gene: AP1S2

Green List (high evidence)
AP1S2 (adaptor related protein complex 1 sigma 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 14 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:29 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 6:27 p.m.
Last Modified: 30 Jan 2023, 6:29 p.m.
Panel version: 2.10

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).
Created: 18 Oct 2021, 11:55 a.m. | Last Modified: 12 Oct 2022, 2:52 p.m.
Panel Version: 1.261
Created: 18 Oct 2021, 11:55 a.m.
Last Modified: 12 Oct 2022, 2:52 p.m.
Panel version: 1.159

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

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_MOI was removed from gene: AP1S2.

30 Jan 2023, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

18 Oct 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AP1S2 were set to 23756445; 17617514; 18428203

18 Oct 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: AP1S2.

18 Oct 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

18 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340; Dystonia

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5 304340 to Dystonia; Mental retardation, X-linked syndromic 5, 304340

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to AP1S2. Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Dystonia; Mental retardation, X-linked syndromic 5 304340 for gene: AP1S2 Publications for gene AP1S2 were changed from to 23756445; 17617514; 18428203

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: AP1S2 was added gene: AP1S2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: AP1S2 was set to