Intellectual disability update Jan 2018
Gene: NONO

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

2 reviews

Helen Brittain (Genomics England Curator)

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

Created: 5 Mar 2018, 12:29 p.m.

Panel version: 0.316

Louise Daugherty (Genomics England Curator)

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).
Created: 20 Feb 2018, 10:59 a.m.

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:2732973) 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.

Created: 20 Feb 2018, 10:50 a.m.

Comment on phenotypes: added phenotype from Orphanet, OMIM, DDD project
Created: 20 Feb 2018, 10:37 a.m.

Created: 19 Feb 2018, 5:32 p.m.

Panel version: 0.40

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
BRIDGE study SPEED NEURO Tier1 Gene

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

None

Publications

Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

20 Feb 2018, Gel status: 3