Childhood onset dystonia, chorea or related movement disorder
Gene: AP1S2The 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
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
Tag Q4_21_MOI was removed from gene: AP1S2.
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)
Publications for gene: AP1S2 were set to 23756445; 17617514; 18428203
Tag Q4_21_MOI tag was added to gene: AP1S2.
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
Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340; Dystonia
Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5 304340 to Dystonia; Mental retardation, X-linked syndromic 5, 304340
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
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