Genes in panel
Regions in panel
Prev Next

Intellectual disability

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

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 12:29 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017 . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 7:49 p.m.

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

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed status from Amber to Green as there are more than three unrelated case with X-linked syndromic mental retardation-34 (MRXS34). Comment on publications: added publications to support the role of NONO variants resulting in patients with an intellectual disability phenotype. Mircsof et al., 2015 (PMID:26571461) reported 3 unrelated males with X-linked syndromic mental retardation-34 finding 3 different hemizygous mutations in the NONO gene. Reinstein et al., 2016 (PMID:27329731) reported a 17-year-old Ashkenazi Jewish boy of Libyan origin with developmental delay, macrocephaly, dysmorphism, and left ventricular non-compaction (LVNC) and identified hemizygosity for a de novo splice site mutation in the NONO gene. Then Scott et al., 2017 (PMID: 27550220) via exome sequencing identified mutations in the NONO gene in 2 unrelated Hispanic boys with global developmental delay, relative macrocephaly, dysmorphic features, and cardiac anomalies including LVNC.Comment on phenotypes: added phenotype from Orphanet, OMIM, DDD project.
Created: 12 Mar 2018, 9:47 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 2:50 p.m.

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
Mental retardation, X-linked, syndromic 34, 300967; MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE; MRXSML; Macrocephaly-intellectual disability-left ventricular non compaction syndrome; Syndromic intellectual disability

Publications

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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic 34, 300967
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE
  • MRXSML
  • Macrocephaly-intellectual disability-left ventricular non compaction syndrome
  • Syndromic intellectual disability
OMIM
300084
Clinvar variants
Variants in NONO
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to NONO.

12 Mar 2018, Gel status: 3

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.

12 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to NONO. Panel: Intellectual disability Model of inheritance for gene NONO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene NONO was set to ['26571461', '27329731', '27550220']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

NONO was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

NONO was created by BRIDGE