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Fetal anomalies

Gene: NONO

Green List (high evidence)
NONO (non-POU domain containing octamer binding)
EnsemblGeneIds (GRCh38): ENSG00000147140
EnsemblGeneIds (GRCh37): ENSG00000147140
OMIM: 300084, Gene2Phenotype
NONO is in 4 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Structural brain abn, mainly abn of CC. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Ebstein s anomaly; Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Mental retardation, X-linked, syndromic 34, MIM# 300967; Ventricular septal defect (VSD)

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but still limited evidence, support keeping as Amber gene for now.

Currently rated Green on the following other PanelApp panel(s): ID and cardiomyopathies

Details of review:
Further fetal case reported by Guo et al 2020 (PMID: 31680349) with 'abnormal heart morphology' (specific details not published) and a likely pathogenic variant in NONO designated as 'probably diagnostic'.
Created: 11 Aug 2022, 9:23 a.m. | Last Modified: 11 Aug 2022, 9:23 a.m.
Panel Version: 1.900

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 11 Aug 2022, 9:23 a.m.
Last Modified: 11 Aug 2022, 9:23 a.m.
Panel version: 1.900

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Currently there is not enough evidence to promote this gene to Green. Additional cases with a fetally-relevant phenotype are required prior to inclusion at diagnostic-grade. Maintaining Amber rating on this panel.
Created: 21 Jan 2021, 1:02 p.m. | Last Modified: 21 Jan 2021, 1:02 p.m.
Panel Version: 1.170
Sun et al. 2020 (PMID: 32397791) report on 5 male fetuses from two unrelated families with a consistent cardiac phenotype including LVNC, VSD, and pulmonary stenosis/atresia. No significant extracardiac malformations were identified. Two different frameshift NONO variants were detected in each family.

NONO variants have also been reported in 7 other unrelated males with a syndromic neurodevelopmental disorder (MIM# 300967); however, prenatal course mostly unremarkable with the exception of IUGR in two cases (patient in PMID: 30773818, DDD patient in PMID: 26571461)
Created: 21 Jan 2021, 1 p.m. | Last Modified: 21 Jan 2021, 1 p.m.
Panel Version: 1.169

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 21 Jan 2021, 1 p.m.
Last Modified: 21 Jan 2021, 1 p.m.
Panel version: 1.169

Suzanne Drury (Congenica Ltd)

PMID: 32397791 describes cardiac anomalies of fetuses with X-linked recessive NONO variants, including left ventricular non-compaction cardiomyopathy and ventricular septal defect.
Created: 16 Jul 2020, 12:04 p.m. | Last Modified: 16 Jul 2020, 12:04 p.m.
Panel Version: 1.74

Publications

Created: 16 Jul 2020, 12:04 p.m.
Last Modified: 16 Jul 2020, 12:04 p.m.
Panel version: 1.74

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for SYNDROMIC INTELLECTUAL DISABILITY
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967
OMIM
300084
Clinvar variants
Variants in NONO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: NONO. Tag Q3_24_promote_green was removed from gene: NONO. Tag Q3_24_NHS_review was removed from gene: NONO.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NONO were changed from Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Ebstein’s anomaly; Ventricular septal defect (VSD); Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967; Atresia to Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: NONO. Tag Q3_24_NHS_review tag was added to gene: NONO.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to NONO. Mode of inheritance for gene NONO was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220

22 Aug 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: NONO.

22 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NONO were set to 32397791

21 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NONO were changed from SYNDROMIC INTELLECTUAL DISABILITY to Left ventricular non-compaction cardiomyopathy (LVNC); Ventricular septal defect (VSD); Pulmonary stenosis; Atresia; Ebstein’s anomaly

21 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

21 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NONO were set to

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: NONO was added gene: NONO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY