Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: PLCB1

Green List (high evidence)

PLCB1 (phospholipase C beta 1)
EnsemblGeneIds (GRCh38): ENSG00000182621
EnsemblGeneIds (GRCh37): ENSG00000182621
OMIM: 607120, Gene2Phenotype
PLCB1 is in 5 panels

7 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 and Helen Lord. 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)

AR EIEE12. Kurian et al 2010 - hom 0.5Mb DEL - incl promotor and ex 1-3, unaff parent het. Poduri et al, 2012 - hom 486kb del - incl promotor and ex 1-3. On HGMDpro - similar del reported by Olson et al, 2014, Ngoh et al 2014 and Lal et al 2015. The patient in the Ngoh et al paper was a compound het with a splicing variant.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 613722

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964_2970

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964_2970

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964_2970

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive; Epileptic encephalopathy, early infantile, 12

Publications

  • Kurian et al (2010) Brain 133: 2964 2970

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Probable DD gene for this disorder, and all 4 reviewers agree this should be green. Loss-of-function variants cause the disorder, and mode of inheritance confirmed in G2P and OMIM.
Created: 21 Jan 2016, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • Epileptic encephalopathy, early infantile, 12
OMIM
607120
Clinvar variants
Variants in PLCB1
Penetrance
None
Publications
  • Kurian et al (2010) Brain 133: 2964_2970
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 PLCB1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PLCB1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment when marking as ready:

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PLCB1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PLCB1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PLCB1 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

PLCB1 was created by Sarah Leigh