Hereditary ataxia

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

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert and OMIM
Created: 4 Feb 2016, 2:41 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of Evidence in literature
Created: 24 Nov 2015, 4:56 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)

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

11 Jul 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AP1S2 was added to Hereditary ataxiapanel. Sources: UKGTN