Skeletal dysplasia
Gene: PRMT7
>3 families reported. Clinical features include short stature, brachydactyly; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
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 SDCreated: 6 Mar 2019, 11:36 a.m.
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
Added phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 for gene: PRMT7
Source NHS GMS was added to PRMT7. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PRMT7 was added to Unexplained skeletal dysplasia panel. Sources: Other
PRMT7 was created by Helen Brittain