Skeletal dysplasia
Gene: AMER1
prev known as WTX gene. In Osteopetrosis and related disorders SD gp. XLD. Many deletions/LOF variants reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Osteopathia striata with cranial sclerosis 300373
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: AMER1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 27 Jul 2016, 12:53 p.m.
Tier 1Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Osteopathia striata with cranial sclerosis 300373
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteopathia striata with cranial sclerosis 300373 for gene: AMER1
Source NHS GMS was added to AMER1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
AMER1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for AMER1 were set to Osteopathia striata with cranial sclerosis 300373
Mode of inheritance for AMER1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
AMER1 was added to Unexplained skeletal dysplasiapanel. Sources:
AMER1 was created by sleigh