Malformations of cortical development
Gene: MN1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
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, 12:27 p.m. | Last Modified: 26 Aug 2020, 12:27 p.m.
Panel Version: 2.9
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, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum).
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. Also phenotypically supportive knockout mouse model.
Sources: LiteratureCreated: 26 Aug 2020, 12:15 p.m. | Last Modified: 26 Aug 2020, 12:29 p.m.
Panel Version: 2.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEBALID syndrome, 618774
Publications
Tag for-review was removed from gene: MN1.
Source Expert Review Green was added to MN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: MN1 were changed from CEBALID syndrome, 618774 to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908
Gene: mn1 has been classified as Amber List (Moderate Evidence).
gene: MN1 was added gene: MN1 was added to Malformations of cortical development. 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; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774 Review for gene: MN1 was set to GREEN