Hereditary ataxia with onset in adulthood
Gene: AP1S2EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 14 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
Zornitza Stark (Australian Genomics)
Childhood onset.Created: 13 Sep 2020, 8:22 a.m. | Last Modified: 13 Sep 2020, 8:22 a.m.
Panel Version: 2.9
Phenotypes
Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple families reported in the literature - all appear to be LoFCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic 5, Pettigrew syndrome, 304340
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 Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Pettigrew syndrome, OMIM:304340
- OMIM
- 300629
- Clinvar variants
- Variants in AP1S2
- Penetrance
- None
- Panels with this gene
-
- Intracerebral calcification disorders
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Hydrocephalus
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_phenotype was removed from gene: AP1S2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to AP1S2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574 to Pettigrew syndrome, OMIM:304340
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome to Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: AP1S2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome for gene: AP1S2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AP1S2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to AP1S2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: AP1S2 was added gene: AP1S2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)