Growth failure in early childhood
Gene: DNA2

DNA2 (DNA replication helicase/nuclease 2)
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

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

History Filter Activity

6 May 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DNA2 were set to PMC3912419

6 May 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DNA2 were changed from seckel syndrome to Seckel syndrome 8, OMIM:615807

14 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DNA2 was added gene: DNA2 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to PMC3912419 Phenotypes for gene: DNA2 were set to seckel syndrome

Growth failure in early childhood Gene: DNA2