Skeletal dysplasia
Gene: DYNC2LI1
Cilliopathies with major skeletal involvement gp of SDs. Several cases reported with biallelic mutations. Thiel et al 2011 report a possible digenic case with het variants in this gene and NEK1.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088
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: DYNC2LI1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Gene added to this panel as green on the Thoracic dystrophies panelCreated: 5 Jun 2017, 1:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088
Added phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088 for gene: DYNC2LI1
Source NHS GMS was added to DYNC2LI1. 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).
This gene has been classified as Green List (High Evidence).
DYNC2LI1 was added to Unexplained skeletal dysplasiapanel. Sources: Other
DYNC2LI1 was created by arianna