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Intellectual disability

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Four different homozygous variants identified in at least 5 unrelated families with microcephalic primordial dwarfism. Only an uncle and niece reported in PMID:24389050 displayed GDD and ID (see Supplemental Table 1) while all of the remaining 4 individuals described in PMID:31045292 had normal cognition and intellectual development.

There is no evidence of ID linked to monoallelic variants which are associated with a distinct phenotype characterised by mitochondrial myopathy (MIM# 615156)

Overall there is not enough evidence to support an association with ID, and so maintaining a Red gene rating on this panel.
Created: 6 May 2021, 10:19 a.m. | Last Modified: 6 May 2021, 10:19 a.m.
Panel Version: 3.1064

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 8, OMIM:615807

Publications

Created: 6 May 2021, 10:19 a.m.
Last Modified: 6 May 2021, 10:19 a.m.
Panel version: 3.1064

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PRIMORDIAL DWARFISM SECKEL SYNDROME 8; SCKL8

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Could not find a link to ID.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Created: 27 Oct 2017, 2:46 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.2

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:07 a.m.

Panel version: 0.306

History Filter Activity

6 May 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DNA2 were set to 23352259; 24389050

6 May 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DNA2 were changed from PRIMORDIAL DWARFISM SECKEL SYNDROME 8; SCKL8 to Seckel syndrome 8, OMIM:615807

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene DNA2 was set to ['23352259', '24389050']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DNA2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DNA2 was created by ellenmcdonagh