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Limb disorders

Gene: DYNC2H1

No list

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 13 panels

3 reviews

Rebecca Foulger (Genomics England curator)

PMID:29458881 (2018, Chen et al) report a 29-year-old, primigravid woman who was referred for genetic counseling at 15 weeks of gestation because of abnormal ultrasound findings of short limbs, a narrow chest and bilateral polydactyly of the hands and feet. The fetus was compound heterozygous for a missense mutation c.8077G > T (p.Asp2693Tyr) of paternal origin in DYNC2H1 and a frameshift mutation c.11741_11742delTT (p.Phe3914X) of maternal origin in DYNC2H1.
Created: 11 Oct 2018, 10:45 a.m.

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:51 p.m.
Comment on list classification: Promoting to green because there are more than 3 cases in which polydactyly/syndactyly are seen.
Created: 6 Nov 2018, 4:57 p.m.
Genomics England clinical team notes - Agree with Amber rating. Not primarily limb. On appropriate panels already
Created: 9 Sep 2018, 6:12 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 19442771 - polydactyly reported in one patient of 9 probands. PMID: 19361615 - additional cases, however polydactyly not seen in all. PMID: 22499340 - the 4 cases reported with a DYNC2H1 variant had polydactyly and/or polysyndactyly.
Created: 9 Apr 2018, 11:12 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly 613091
  • Polydactyly
OMIM
603297
Clinvar variants
Variants in DYNC2H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on publications: PMID:

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dync2h1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to DYNC2H1. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dync2h1 has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dync2h1 has been classified as Green List (High Evidence).

11 Oct 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340

13 Aug 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DYNC2H1. Panel: Limb disorders Phenotypes for gene DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly 613091, Polydactyly

9 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DYNC2H1 were set to 19442771; 19361615; 22499340

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was created by Ellen McDonagh