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Genetic epilepsy syndromes

Gene: PACS1

Green List (high evidence)

PACS1 (phosphofurin acidic cluster sorting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000175115
EnsemblGeneIds (GRCh37): ENSG00000175115
OMIM: 607492, Gene2Phenotype
PACS1 is in 5 panels

5 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schuurs-Hoeijmakers syndrome, 615009

Publications

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Konstantinos Varvagiannis (Other)

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PMID 28111752 reports on 8 previously unpublished individuals with the recurrent de novo PACS1 missense variant (p.Arg203Trp) and summarizes the data from a previous review of 19 individuals (PMID 26842493).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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Schuurs-Hoeijmakers syndrome, 615009
OMIM
607492
Clinvar variants
Variants in PACS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PACS1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PACS1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Konstantinos Varvagiannis: PMID 28111752 reports on 8 pr

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pacs1 has been classified as Green List (High Evidence).

26 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PACS1 were set to 28111752; 26842493; 23159249

26 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PACS1 were set to 28111752; 26842493

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pacs1 has been classified as Green List (High Evidence).

16 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

PACS1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

16 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

PACS1 was created by Konstantinos Varvagiannis