Laterality disorders and isomerism

Gene: MNS1

Amber List (moderate evidence)

MNS1 (meiosis specific nuclear structural 1)
EnsemblGeneIds (GRCh38): ENSG00000138587
EnsemblGeneIds (GRCh37): ENSG00000138587
OMIM: 610766, Gene2Phenotype
MNS1 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene has been added as an Amber gene and will be promoted to a Green gene at the next major update. It has been tagged with "for-review".
Created: 26 Aug 2020, 12:42 p.m. | Last Modified: 26 Aug 2020, 12:42 p.m.
Panel Version: 1.11
New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There are 2 mouse models (PMID: 22396656, 30148830) that resembled the human disease. Therefore, there is enough evidence for this gene to be rated Green.
Created: 26 Aug 2020, 12:41 p.m. | Last Modified: 26 Aug 2020, 12:41 p.m.
Panel Version: 1.10

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Sources: Literature
Created: 2 May 2020, 2:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy; male infertility

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Heterotaxy, visceral, 9, autosomal, with male infertility, 618948
Tags
for-review
OMIM
610766
Clinvar variants
Variants in MNS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mns1 has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: MNS1.

26 Aug 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MNS1 were set to 31534215; 30148830

25 Aug 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy, visceral, 9, autosomal, with male infertility, 618948

2 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MNS1 was added gene: MNS1 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNS1 were set to 31534215; 30148830 Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility Review for gene: MNS1 was set to GREEN gene: MNS1 was marked as current diagnostic