Structural basal ganglia disorders

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 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 5 variants reported.
Created: 16 Mar 2017, 11:25 a.m.
Comment on publications: 17617514 - identification of AP1S2 variants in a large 4-generation French family, and a Scottish family, marked calcifications of the basal ganglia were reported in affected individuals in both families
18428203 - an additional two families reported "Studying four patients in two unrelated families in which AP1S2 nonsense and splicesite mutations segregated, we found that affected individuals presented, in addition to previously described features, with elevated protein levels in cerebrospinal fluid (CSF). Moreover, computed tomography scans demonstrated that the basal ganglia calcifications associated with AP1S2 mutations appeared during childhood and might be progressive. Based on these observations, we propose that AP1S2 mutations are responsible for a clinically recognizable XLMR and autism syndrome associating hypotonia, delayed walking, speech delay, aggressive behavior, brain calcifications, and elevated CSF protein levels."
Created: 16 Mar 2017, 11:23 a.m.
Comment on phenotypes: PETTIGREW SYNDROME
Created: 14 Mar 2017, 6:06 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Not that many families with Basal Ganglia changes but probably should include in this panel
Created: 1 Mar 2017, 1:54 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AP1S2 were set to 23756445; 17617514; 18428203

16 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AP1S2 were set to 23756445; 17617514

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2017, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AP1S2 were set to Mental retardation, X-linked syndromic 5 304340

14 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AP1S2 were set to 23756445; 17617514

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

AP1S2 was added to Structural basal ganglia disorderspanel. Source: Emory Genetics Laboratory

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AP1S2 was added to Structural basal ganglia disorderspanel. Sources: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AP1S2 was created by sleigh