Early onset or syndromic epilepsy

Gene: PACS1

I don't know

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schuurs-Hoeijmakers syndrome, 615009

Publications

• 23159249

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.

Green List (high evidence)

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

• 26842493

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

Green List (high evidence)

PMID 28111752 reports on 8 previously unpublished individuals with the recurrent de novo PACS1 missense variant (p.Arg203Trp) and summarizes the data from a previous review of 19 individuals (PMID 26842493).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

• 28111752
• 26842493