Skeletal dysplasia
Gene: DYNC2LI1

DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1)
EnsemblGeneIds (GRCh38): ENSG00000138036
EnsemblGeneIds (GRCh37): ENSG00000138036
OMIM: 617083, Gene2Phenotype
DYNC2LI1 is in 10 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Gene added to this panel as green on the Thoracic dystrophies panel
Created: 5 Jun 2017, 1:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088

Created: 5 Jun 2017, 1:07 p.m.

Panel version: 1.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Other

Phenotypes

SRTD15 #617088
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SRTD15 #617088

OMIM

617083

Clinvar variants

Variants in DYNC2LI1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088 for gene: DYNC2LI1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DYNC2LI1. Rating Changed from Green List (high evidence) to Green List (high evidence)

5 Jun 2017, Gel status: 4