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Intellectual disability

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Gene2Phenotype confirmed gene with ID related disease – Pseudohypoparathyroidism-like disorder
Created: 4 Jan 2018, 11:09 a.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype; presents with developmental delay, short stature and obesity.
Created: 21 Dec 2017, 1:48 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 8:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 7:17 p.m.
Comment on phenotypes: updated phenotype from OMIM
Created: 21 Dec 2017, 4:49 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:24 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
OMIM
610087
Clinvar variants
Variants in PRMT7
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: prmt7 has been classified as Green List (High Evidence).

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PRMT7.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Jan 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to PRMT7. Panel: Intellectual disability

21 Dec 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157; Pseudohypoparathyroidism-like disorder

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

PRMT7 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

PRMT7 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene