Limb disorders
Gene: DYNC2H1

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 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.

Created: 11 Oct 2018, 10:45 a.m.

Panel version: 0.212

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.

Created: 9 Sep 2018, 6:12 p.m.

Panel version: 0.146

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.

Created: 9 Apr 2018, 11:12 a.m.

Panel version: 0.93

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, OMIM:613091

Tags

curated_removed

OMIM

603297

Clinvar variants

Variants in DYNC2H1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Feb 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly 613091; Polydactyly to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: DYNC2H1.

11 Dec 2018, Gel status: 0