Hereditary ataxia with onset in adulthood
Gene: AP1S2The 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
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
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.
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
Tag Q2_21_phenotype was removed from gene: AP1S2.
Source Expert Review Amber was added to AP1S2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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
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
Tag Q2_21_phenotype tag was added to gene: AP1S2.
Added phenotypes Mental retardation, X-linked syndromic 5, 304340; Pettigrew syndrome for gene: AP1S2
Source NHS GMS was added to AP1S2.
Source Wessex and West Midlands GLH was added to AP1S2.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
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)