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Rare multisystem ciliopathy disorders

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: 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
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

25 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for DYNC2LI1 were set to Short-rib throacic dysplasia 15 with polydactyly, 617088

25 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for DYNC2LI1 were set to 26077881

25 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

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

25 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

25 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DYNC2LI1 was created by ellenmcdonagh

25 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC2LI1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other