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Clefting disorders

Gene: MYCN

Red List (low evidence)

MYCN (MYCN proto-oncogene, bHLH transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000134323
EnsemblGeneIds (GRCh37): ENSG00000134323
OMIM: 164840, Gene2Phenotype
MYCN is in 12 panels

1 review

Achchuthan Shanmugasundram (Genomics England)

Red List (low evidence)

Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies from mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 21 Nov 2022, 4:06 p.m. | Last Modified: 22 Nov 2022, 2:51 p.m.
Panel Version: 0.187

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

Phenotypes
cleft lip with or without cleft palate, MONDO:0016034

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • cleft lip with or without cleft palate, MONDO:0016034
OMIM
164840
Clinvar variants
Variants in MYCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mycn has been classified as Red List (Low Evidence).

22 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mycn has been classified as Red List (Low Evidence).

21 Nov 2022, Gel status: 0

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

Achchuthan Shanmugasundram (Genomics England)

gene: MYCN was added gene: MYCN was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCN were set to 34590686 Phenotypes for gene: MYCN were set to cleft lip with or without cleft palate, MONDO:0016034 Review for gene: MYCN was set to RED