Limb disorders
Gene: DYNC2H1PMID: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.
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 alreadyCreated: 9 Sep 2018, 6:12 p.m.
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.
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
Tag curated_removed tag was added to gene: DYNC2H1.
Ellen McDonagh: Comment on publications: PMID:
Gene: dync2h1 has been removed from the panel.
Source Expert Review Removed was added to DYNC2H1. Rating Changed from Green List (high evidence) to No List (delete)
Gene: dync2h1 has been classified as Green List (High Evidence).
Gene: dync2h1 has been classified as Green List (High Evidence).
Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340
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
This gene has been classified as Amber List (Moderate Evidence).
Publications for DYNC2H1 were set to 19442771; 19361615; 22499340
DYNC2H1 was added to Limb disorders panel. Sources: Other
DYNC2H1 was created by Ellen McDonagh