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Genetic epilepsy syndromes

Gene: PRMT7

Green List (high evidence)

PRMT7 (protein arginine methyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000132600
EnsemblGeneIds (GRCh37): ENSG00000132600
OMIM: 610087, Gene2Phenotype
PRMT7 is in 6 panels

3 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 short stature, brachydactyly, intellectual developmental disability and seizures (SBIDDS). Akawi et al, 2015 - 6 females from 3 unrelated families with skeletal abnormalities - 4 had mild seizures either partial or absence, compound het variants and segregated with disease in the families . Kernohan et al, 2017 - consang boy of Afghan parents - seizures present - hom 15,309bp encompassing the transcription start site (would we be able to dectect this) - functional studies undertaken. Agolini et al, 2018 - 3 additional patients from 2 consang families with phenotype as before. Family 1 hom nonsense - unaff parents and sib all het. Family 2 - hom missense variant - aff sibs hom, unaff parents - het. Molecular modelling suggests it will have an impact on normal protein folding.
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
short stature brachydactyly intellectual developmental disability and seizures 617157

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 4 cases.
Created: 10 Apr 2018, 12:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, brachydactyly, intellectual developmental disability, and seizures 617157

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
OMIM
610087
Clinvar variants
Variants in PRMT7
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 PRMT7.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PRMT7.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PRMT7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PRMT7 was created by Sarah Leigh