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  2. Skeletal Dysplasia_Fetal
  3. DYNC2LI1
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Skeletal Dysplasia_Fetal

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 families reported, both PTVs and missense variants reported
Created: 15 Oct 2020, 6:51 a.m. | Last Modified: 15 Oct 2020, 6:51 a.m.
Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)

Publications

Created: 15 Oct 2020, 6:51 a.m.
Last Modified: 15 Oct 2020, 6:51 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.53

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
617083
Clinvar variants
Variants in DYNC2LI1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DYNC2LI1 was set to Unknown