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Fetal anomalies

Gene: DNA2

Green List (high evidence)
DNA2 (DNA replication helicase/nuclease 2)
EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 13 panels, inc. IEM, IUGR and IGF abnormalities, DDG2P, severe paediatric disorders, severe microcephaly. Associated with ?Seckel syndrome 8 (AR) and Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6. Shaheen et al., 2014 PMID 24389050: Paper looking at primordial dwarfism: severely impaired fetal growth persists throughout postnatal development. Identified DNA2 variant in a family with Seckel syndrome: c.3372+6delC - confirmed it leads to aberrant splicing. "It is interesting to note that both parental pairs in this extended family had numerous miscarriages, suggesting that severe reduction in DNA2 is probably incompatible with life". Tarnauskaite et al., 2019 PMID 31045292: All 4 patients had severe microcephaly and markedly reduced height. 3/4 with DNA2 variants had prominent large upper incisors and high frontal hairline. No other significant health problems other than Px3 = severe thoracic kyphoscoliosis and recurrent chest infections. Normal ID and development, Px2 was 46yo. "Affected individuals exhibit extreme reduction in birth weight, postnatal height, and occipitofrontal circumference (OFC), reflecting global growth failure of prenatal onset and extreme microcephaly". Conclusion: linked to prenatal phenotypes (severe IUGR, extreme microcephaly). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 8, OMIM:615807

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: DNA2. Tag Q2_23_NHS_review was removed from gene: DNA2.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to DNA2. Source NHS GMS was added to DNA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DNA2 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: DNA2. Tag Q2_23_NHS_review tag was added to gene: DNA2.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: DNA2 was added gene: DNA2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807