Hereditary ataxia
Gene: AP1S2EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 14 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:41 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of Evidence in literatureCreated: 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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Pettigrew syndrome, OMIM:304340
- OMIM
- 300629
- Clinvar variants
- Variants in AP1S2
- Penetrance
- Complete
- Panels with this gene
-
- Intracerebral calcification disorders
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary ataxia with onset in adulthood
- Hydrocephalus
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
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)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)AP1S2 was added to Hereditary ataxiapanel. Sources: UKGTN