Microcephaly
Gene: DNA2

DNA2 (DNA replication helicase/nuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype. Note this gene is associated with multiple phenotypes.
Created: 18 Dec 2019, 7:26 a.m. | Last Modified: 18 Dec 2019, 7:26 a.m.

Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 8, MIM#615807

Publications

Created: 18 Dec 2019, 7:26 a.m.
Last Modified: 18 Dec 2019, 7:26 a.m.
Panel version: 0.44

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Seckel syndrome 8, MIM#615807

OMIM

601810

Clinvar variants

Variants in DNA2

Penetrance

None

Publications

Panels with this gene