Hand and foot malformations
Gene: DYNC1I1

DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1)
EnsemblGeneIds (GRCh38): ENSG00000158560
EnsemblGeneIds (GRCh37): ENSG00000158560
OMIM: 603772, Gene2Phenotype
DYNC1I1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease.
Created: 22 Sep 2021, 4:31 a.m. | Last Modified: 22 Sep 2021, 4:31 a.m.

Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Split-hand/split-foot malformation (SHFM)

Publications

Created: 22 Sep 2021, 4:31 a.m.
Last Modified: 22 Sep 2021, 4:31 a.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list

Phenotypes

Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related

Tags

SV/CNV

OMIM

603772

Clinvar variants

Variants in DYNC1I1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related

22 Sep 2021, Gel status: 3