Skeletal dysplasia
Gene: EXTL3
not listed in SD nosology paper but cases reported by Oud et al 2017 have skeletal dysplasia: 7/9 cases have severe platyspondyly with disproportionate short stature.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
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: EXTL3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Gene added to panel as green after confirmation from the clinical team. There are more than 3 families reported for immunoskeletal dysplasia with neurodevelopmental abnormalities, with different variants.Created: 18 Sep 2017, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Publications
Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425; Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 for gene: EXTL3
Source NHS GMS was added to EXTL3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
EXTL3 was created by ellenmcdonagh
EXTL3 was added to Unexplained skeletal dysplasiapanel. Sources: Literature