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Genetic epilepsy syndromes

Gene: PURA

Green List (high evidence)

PURA (purine rich element binding protein A)
EnsemblGeneIds (GRCh38): ENSG00000185129
EnsemblGeneIds (GRCh37): ENSG00000185129
OMIM: 600473, Gene2Phenotype
PURA is in 4 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)

AD mental retardation 31 (MRD31). Lalani et al, 2014 - 11 unrelated children with a similar neurodevelopmental disorder - amlonst all had early-onset seizures, often myoclonic but also generalised - all had de novo het mutations in the PURA gene (4 trunating, 5 missense and 2 in-frame del - no functional work). Hunt et al, 2014 - 4 unrelated girls with neurodevelopmental delay - 3/4 had seizures - found 4 de novo het mutations (2 truncating, 1 missense, 1 in frame del) - no functional work. Tanaka et al, 2015 - 6 unrelated children, 2/6 had seizure-like activity - 6 diff de novo het mutations (missense, frameshift and small intragenic dels) - no functional work. DDD study 2015 - 3 female patients with dev delay all had het de novo PURA mutations - no mention of seizures. Lee et al, 2017 - report 18 new individuals with de novo pathogenic PURA variants - 9/18 had epilepsy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, 616158

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Hunt et al (2014) Lalani (2014)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Hunt et al (2014) Lalani (2014)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Hunt et al (2014) Lalani (2014)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Hunt et al (2014) Lalani (2014)

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.
Created: 21 Jan 2016, 11:46 a.m.
Comment on mode of inheritance: Confirmed with G2P and OMIM, and not on the imprinted gene list.
Created: 21 Jan 2016, 11:44 a.m.
Comment on phenotypes: Sourced from G2P and OMIM.
Created: 21 Jan 2016, 11:43 a.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:20 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 31
  • INTELLECTUAL DISABILITY
OMIM
600473
Clinvar variants
Variants in PURA
Penetrance
None
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 PURA.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PURA.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PURA was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

PURA was created by Sarah Leigh