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Limb disorders

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rated as Green as there are more than 3 cases of individuals with brachydactyly and LOF variants in the PRMT7 gene.
Created: 6 Nov 2018, 10:08 p.m.
Genomics England clinical team notes - Not primarily limb phenotype (skeletal dysplasia + ID), on appropriate panels.
Created: 9 Sep 2018, 5:54 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical team
Created: 9 Sep 2018, 5:54 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for Pseudohypoparathyroidism-like disorder (PMID: 26437029).
Created: 9 Apr 2018, 3:29 p.m.
PMID: 26437029 - homozygous/compound heterozygous loss of function and missense variants identified in individuals with Short stature, brachydactyly, intellectual developmental disability, and seizures from 3 families. PMID: 27718516 - a homozygous deletion identified in a boy with Short stature, brachydactyly, intellectual developmental disability, and seizures which encompasses the transcriptional start site of this gene, and was shown to segregate with the disorder in the family.
Created: 9 Apr 2018, 3:12 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
  • Expert Review Green
  • Other
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
  • Pseudohypoparathyroidism-like disorder
OMIM
610087
Clinvar variants
Variants in PRMT7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: PMID: 26437029 - homozygous/co

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: prmt7 has been classified as Amber List (Moderate Evidence).

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRMT7 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PRMT7 was created by Ellen McDonagh