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Heterotaxy

Gene: MNS1

Green List (high evidence)
MNS1 (meiosis specific nuclear structural 1)
EnsemblGeneIds (GRCh38): ENSG00000138587
EnsemblGeneIds (GRCh37): ENSG00000138587
OMIM: 610766, Gene2Phenotype
MNS1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Created: 26 Apr 2020, 2:51 a.m. | Last Modified: 26 Apr 2020, 2:51 a.m.
Panel Version: 0.9
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.
Sources: Literature
Created: 26 Apr 2020, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility 618948

Publications

Created: 26 Apr 2020, 2:50 a.m.

Panel version: 0.103

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy
  • male infertility
  • Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948
OMIM
610766
Clinvar variants
Variants in MNS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mns1 has been classified as Green List (High Evidence).

26 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mns1 has been classified as Green List (High Evidence).

26 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MNS1 was added gene: MNS1 was added to Heterotaxy. 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