Skeletal dysplasia
Gene: DCC
Clinical features include childhood-onset progressive scoliosis. Two families reported, both with intragenic deletions.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
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: DCC; Initial rating suggestion: Amber - ?SD, only 2 casesCreated: 6 Mar 2019, 11:36 a.m.
Associated with phenotype in OMIM, not in G2P. At least two homozygous variants reported in two unrelated families, segregation demonstrated in one four generation familyCreated: 15 Aug 2017, 1:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Publications
Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 for gene: DCC
Source NHS GMS was added to DCC.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
DCC was created by sleigh
DCC was added to Unexplained skeletal dysplasiapanel. Sources: Literature