Limb disorders
Gene: PRMT7Comment 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 teamCreated: 9 Sep 2018, 5:54 p.m.
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
Ellen McDonagh: PMID: 26437029 - homozygous/co
Gene: prmt7 has been classified as Green List (High Evidence).
Gene: prmt7 has been classified as Green List (High Evidence).
Gene: prmt7 has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157; Pseudohypoparathyroidism-like disorder
PRMT7 was added to Limb disorders panel. Sources: Other
PRMT7 was created by Ellen McDonagh