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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. DYNC2LI1
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: DYNC2LI1

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

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
  • SRTD15 #617088
OMIM
617083
Clinvar variants
Variants in DYNC2LI1
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DYNC2LI1 was added gene: DYNC2LI1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2LI1 were set to SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088