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Fetal anomalies

Gene: NUAK2

Red List (low evidence)
NUAK2 (NUAK family kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000163545
EnsemblGeneIds (GRCh37): ENSG00000163545
OMIM: 608131, Gene2Phenotype
NUAK2 is in 1 panel

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

No additional clinical information after PMID: 32845958.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anencephaly 2, MIM#619452

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Single consanguineous family with three consecutive fetuses with anencephaly. Exome sequencing revealed a recessive 21-bp in-frame deletion in NUAK2 segregating with the disease. Pathogenicity is supported by in vitro and animal model data.

Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade (added 'watchlist' tag)
Created: 26 Jan 2021, 4:34 p.m. | Last Modified: 26 Jan 2021, 4:34 p.m.
Panel Version: 1.184
Created: 26 Jan 2021, 4:34 p.m.
Last Modified: 26 Jan 2021, 4:34 p.m.
Panel version: 1.184

Zornitza Stark (Australian Genomics)

I don't know

Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out.
Sources: Literature
Created: 5 Oct 2020, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anencephaly

Publications

Created: 5 Oct 2020, 9:40 a.m.

Panel version: 1.97

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Anencephaly 2, OMIM:619452
Tags
watchlist
OMIM
608131
Clinvar variants
Variants in NUAK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NUAK2 were changed from Anencephaly; ?Anencephaly 2, OMIM:619452 to ?Anencephaly 2, OMIM:619452

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to NUAK2. Source Expert Review Red was added to NUAK2. Added phenotypes ?Anencephaly 2, OMIM:619452 for gene: NUAK2 Publications for gene: NUAK2 were updated from 32845958; 22689267 to 22689267; 32845958 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

26 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: NUAK2.

26 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NUAK2 were set to 32845958

26 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nuak2 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NUAK2 was added gene: NUAK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUAK2 were set to 32845958 Phenotypes for gene: NUAK2 were set to Anencephaly Review for gene: NUAK2 was set to AMBER