1. Panels
  2. Skeletal dysplasia
  3. PRMT7
Genes in panel
Prev Next
STRs in panel
Prev Next

Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

>3 families reported. Clinical features include short stature, brachydactyly; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PRMT7; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.
Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Helen Brittain (Genomics England Curator)

Green List (high evidence)

4 unrelated cases; short stature and brachydactyly cause phenotypic overlap with this panel.
Created: 2 Jan 2018, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 2 Jan 2018, 3:32 p.m.

Panel version: 1.77

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
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

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 for gene: PRMT7

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PRMT7. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Jan 2018, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

PRMT7 was added to Unexplained skeletal dysplasia panel. Sources: Other

2 Jan 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

PRMT7 was created by Helen Brittain