Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: DYNC1I1

Green List (high evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene disease association reviewed Sept 2021 - no new publications

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.
Sources: Literature
Created: 17 Jan 2022, 12:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync1i1 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync1i1 has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DYNC1I1.

17 Jan 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: DYNC1I1 was added gene: DYNC1I1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838 Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM) Review for gene: DYNC1I1 was set to GREEN