Early onset or syndromic epilepsy
Gene: PACS1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schuurs-Hoeijmakers syndrome, 615009
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 19 reports of a single de novo variant recorded.Created: 26 Sep 2018, 9:43 a.m.
Seizures are part of the phenotype of this intellectual disability syndrome.Created: 18 Aug 2018, 8:45 a.m.
Phenotypes
Schuurs-Hoeijmakers syndrome, MIM#615009
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID 28111752 reports on 8 previously unpublished individuals with the recurrent de novo PACS1 missense variant (p.Arg203Trp) and summarizes the data from a previous review of 19 individuals (PMID 26842493). Seizures appear to be a common feature of the disorder, present in approximately two thirds of patients (17/26).Created: 16 Aug 2018, 4:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schuurs-Hoeijmakers syndrome, 615009
Publications
Source Wessex and West Midlands GLH was added to PACS1.
Source NHS GMS was added to PACS1.
Konstantinos Varvagiannis: PMID 28111752 reports on 8 pr
Gene: pacs1 has been classified as Green List (High Evidence).
Publications for gene: PACS1 were set to 28111752; 26842493; 23159249
Publications for gene: PACS1 were set to 28111752; 26842493
Gene: pacs1 has been classified as Green List (High Evidence).
PACS1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
PACS1 was created by Konstantinos Varvagiannis