Monogenic short stature
Gene: DNA2
DNA2 (DNA replication helicase/nuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 13 panels
1 review
Arina Puzriakova (Genomics England Curator)
Seckel syndrome-related genes are outside the scope of this clinical indication and therefore have been classified as Red on this panel. Seckel syndrome is distinguishable due to marked microcephaly and therefore would be investigated under Severe Microcephaly (R88)Created: 6 May 2021, 10:33 a.m. | Last Modified: 6 May 2021, 10:33 a.m.
Panel Version: 1.66
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Seckel syndrome 8, OMIM:615807
- OMIM
- 601810
- Clinvar variants
- Variants in DNA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Severe microcephaly
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Mitochondrial DNA maintenance disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- IUGR and IGF abnormalities
- Possible mitochondrial disorder - nuclear genes
- Monogenic short stature
- Fetal anomalies
- Cerebral vascular malformations
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: DNA2 was added gene: DNA2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 24389050; 31045292 Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807