IUGR and IGF abnormalities
Gene: DNA2
DNA2 (DNA replication helicase/nuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 16 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Richard Scott (Genomics England Curator)
Comment on list classification: Only one case to date - insufficient evidence to includeCreated: 2 May 2016, 8:47 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- seckel syndrome
- OMIM
- 601810
- Clinvar variants
- Variants in DNA2
- Penetrance
- Complete
- Publications
-
- PMC3912419
- Panels with this gene
-
- Intellectual disability
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Severe microcephaly
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- IUGR and IGF abnormalities
- Mitochondrial DNA maintenance disorder
- DDG2P
- Fetal anomalies
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Monogenic short stature
- Cutaneous photosensitivity with a likely genetic cause
History Filter Activity
2 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
2 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)DNA2 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)DNA2 was created by PhilMurray