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  3. DYNC2LI1
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Skeletal ciliopathies

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

Alice Gardham (Genomics England)

Green List (high evidence)

three reported cases with mutations identified
Created: 25 Jan 2017, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib throacic dysplasia 15 with polydactyly 617088

Publications

Created: 25 Jan 2017, 12:27 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.457

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Short-rib throacic dysplasia 15 with polydactyly, 617088
OMIM
617083
Clinvar variants
Variants in DYNC2LI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Skeletal ciliopathies. Sources: Other,Expert Review Green Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2LI1 were set to 26077881 Phenotypes for gene: DYNC2LI1 were set to Short-rib throacic dysplasia 15 with polydactyly, 617088