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  3. MN1
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Deafness_IsolatedAndComplex

Gene: MN1

Green List (high evidence)
MN1 (MN1 proto-oncogene, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000169184
EnsemblGeneIds (GRCh37): ENSG00000169184
OMIM: 156100, Gene2Phenotype
MN1 is in 6 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

MN1 is associated to CEBALID syndrome (MIM# 618774), and 16 out of 20 individuals with this condition reported by PMID 31834374, presented conductive or sensorineural hearing loss, accompanied by other features such as facial dysmorphism and ID.
Sources: Literature
Created: 25 Mar 2021, 11:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Conductive and sensorineural hearing loss

Publications

Mode of pathogenicity
Other

Created: 25 Mar 2021, 11:31 p.m.

Panel version: 1.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Conductive and sensorineural hearing loss
  • CEBALID syndrome, MIM# 618774
OMIM
156100
Clinvar variants
Variants in MN1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MN1 were changed from Conductive and sensorineural hearing loss to Conductive and sensorineural hearing loss; CEBALID syndrome, MIM# 618774

26 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mn1 has been classified as Green List (High Evidence).

26 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mn1 has been classified as Green List (High Evidence).

25 Mar 2021, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: MN1 was added gene: MN1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MN1 were set to 31834374 Phenotypes for gene: MN1 were set to Conductive and sensorineural hearing loss Mode of pathogenicity for gene: MN1 was set to Other Review for gene: MN1 was set to GREEN