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Fetal anomalies

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

Chirag Patel (Genetic Health Queensland)

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. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Sources: Expert list
Created: 24 Feb 2022, 3:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

24 Feb 2022, 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).

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

24 Feb 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: MNS1 was added gene: MNS1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNS1 were set to PMID: 31534215; 30148830 Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility 618948 Review for gene: MNS1 was set to GREEN