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Fetal anomalies

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: Imported from Intellectual disability syndromic and non-syndromic 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.

Diaphragmatic hernia, craniosynostosis and brain abnormalities reported.

Sources: Literature
Created: 27 Dec 2019, 1:47 a.m. | Last Modified: 14 Feb 2022, 12:20 a.m.
Panel Version: 0.3380

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.
Last Modified: 14 Feb 2022, 12:20 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2600

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • CEBALID syndrome, OMIM:618774
  • CEBALID syndrome, MONDO:0032908
OMIM
156100
Clinvar variants
Variants in MN1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 Feb 2022, 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).

14 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Feb 2022, 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).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908 Mode of pathogenicity for gene: MN1 was set to Other