Thoracic dystrophies

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

3 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
JATD

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Expert review green. Sufficient cases for inclusion.
Created: 25 May 2017, 12:08 p.m.
Sufficient cases on OMIM
Created: 25 May 2017, 12:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JATD

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 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

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for DYNC2LI1 were set to SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088

25 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for DYNC2LI1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

DYNC2LI1 was added to Thoracic dystrophiespanel. Sources: Expert Review

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

DYNC2LI1 was created by hmitchis