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  3. MN1
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Intellectual disability syndromic and non-syndromic

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

2 reviews

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

New MIM number now available for the ID syndrome. Autosomal dominant inheritance.
Created: 27 Apr 2020, 3:47 a.m. | Last Modified: 27 Apr 2020, 3:47 a.m.
Panel Version: 0.2598

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CEBALID syndrome, MIM#618774

Created: 27 Apr 2020, 3:47 a.m.
Last Modified: 27 Apr 2020, 3:47 a.m.
Panel version: 0.2598

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.
Sources: Literature
Created: 27 Dec 2019, 1:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; dysmophic features; rhombencephalosynapsis

Publications

Mode of pathogenicity
Other

Created: 27 Dec 2019, 1:47 a.m.

Panel version: 0.2600

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CEBALID syndrome, MIM#618774
  • Intellectual disability
  • dysmophic features
  • rhombencephalosynapsis
OMIM
156100
Clinvar variants
Variants in MN1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

27 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis

27 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Dec 2019, 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).

27 Dec 2019, 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).

27 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MN1 was added gene: MN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: MN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MN1 were set to 31834374; 31839203 Phenotypes for gene: MN1 were set to Intellectual disability; dysmophic features; rhombencephalosynapsis Mode of pathogenicity for gene: MN1 was set to Other Review for gene: MN1 was set to GREEN