Limb disorders

Gene: PRMT7

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.

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

• 26437029
• 27718516