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Hearing loss

Gene: MN1

Amber List (moderate evidence)

MN1 (MN1 proto-oncogene, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000169184
EnsemblGeneIds (GRCh37): ENSG00000169184
OMIM: 156100, Gene2Phenotype
MN1 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - added to this panel following suggestion from the clinical team.
Created: 26 Aug 2020, 1:06 p.m. | Last Modified: 26 Aug 2020, 1:06 p.m.
Panel Version: 2.42
Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P.

Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum). 20/25 individuals had conductive and/or sensorineural hearing loss (no report on hearing status in a further 6 individuals across the two studies).

Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect.
Sources: Literature
Created: 26 Aug 2020, 1:05 p.m.

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

Phenotypes
CEBALID syndrome, 618774

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CEBALID syndrome, OMIM:618774
  • CEBALID syndrome, MONDO:0032908
Tags
for-review
OMIM
156100
Clinvar variants
Variants in MN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MN1 were changed from CEBALID syndrome, 618774 to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mn1 has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MN1 was added gene: MN1 was added to Hearing loss. Sources: Literature for-review tags were added to gene: MN1. Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203 Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774 Review for gene: MN1 was set to GREEN