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Intellectual disability

Gene: MYCN

Green List (high evidence)
MYCN (MYCN proto-oncogene, bHLH transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000134323
EnsemblGeneIds (GRCh37): ENSG00000134323
OMIM: 164840, Gene2Phenotype
MYCN is in 9 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Gain-of-function MYCN variants have been reported (PMID: 30573562; 37710961) where the phenotypic features are to an extent opposite the phenotype of Feingold syndrome 1 (OMIM:164280) caused by loss-of-function MYCN variants.
Created: 2 Nov 2023, 4:41 p.m. | Last Modified: 2 Nov 2023, 4:41 p.m.
Panel Version: 5.330
Created: 2 Nov 2023, 4:41 p.m.
Last Modified: 2 Nov 2023, 4:41 p.m.
Panel version: 5.330

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 37710961: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals) and somewhat opposing phenotype cf Feingold. Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.
Created: 21 Oct 2023, 7 a.m. | Last Modified: 21 Oct 2023, 7 a.m.
Panel Version: 5.315
Many reports of missense and PTC variants resulting in a LoF, in individuals with Feingold syndrome, of which microcephaly is a key feature.

Only a single report of a de novo missense showing a GoF in an individual with a novel megalencephaly syndrome (megalencephaly, ID, ventriculomegaly, hypoplastic corpus callosum, polydactyly and neuroblastoma)
Created: 11 Jun 2021, 8:39 a.m. | Last Modified: 11 Jun 2021, 8:39 a.m.
Panel Version: 3.1120

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 1; Megalencephaly, intellectual disability; Neurodevelopmental disorder (MONDO:0700092), MYCN-related

Publications

Created: 11 Jun 2021, 8:39 a.m.
Last Modified: 11 Jun 2021, 8:39 a.m.
Panel version: 5.315

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FEINGOLD SYNDROME TYPE 1

Publications

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

Panel version: 0

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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:44 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Aug 2017, 8:42 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

Green List (high evidence)

Created: 23 Feb 2016, 10:50 a.m.

Panel version: 0.306

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Feingold syndrome 1, OMIM:164280
OMIM
164840
Clinvar variants
Variants in MYCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MYCN were set to 37710961; 21224895; 8470948; 16906565; 18671284; 15821734; 18470948

2 Nov 2023, Gel status: 3

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: MYCN was changed from to None

2 Nov 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MYCN were set to 21224895; 8470948; 16906565; 18671284; 15821734; 18470948

28 Jul 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYCN were set to 21224895; 8470948

28 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYCN were changed from Feingold syndrome, 164280; FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1, OMIM:164280

28 Jul 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYCN were set to

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MYCN.

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.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MYCN was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYCN was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen