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Cerebral vascular malformations

Gene: DNA2

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

1 review

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations only identified in one family with Seckel syndrome
Created: 15 Dec 2016, 9:07 a.m.
Seckel syndrome associated with Moyamoya and intracerebral aneurysms
Created: 14 Dec 2016, 5:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 8 615807

Created: 14 Dec 2016, 5:28 p.m.

Panel version: 0.60

History Filter Activity

6 May 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DNA2.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNA2.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

15 Dec 2016, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for DNA2 were set to 24389050

14 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

DNA2 was added to Cerebrovascular disorderspanel. Sources: Literature

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

DNA2 was created by agardham