Skeletal dysplasia
Gene: NANS
Not in nosology paper but similar phenotypes listed. - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Publications
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: NANS; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Sufficient evidence of causation. SEMD + IDCreated: 9 May 2017, 2 p.m.
Above PMID identified biallelic mutations in 9 cases. SEMD with ID.Created: 9 May 2017, 1:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Publications
Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 for gene: NANS
Source NHS GMS was added to NANS. 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).
This gene has been classified as Green List (High Evidence).
NANS was created by helen.brittain
NANS was added to Unexplained skeletal dysplasiapanel. Sources: Literature