Laterality disorders and isomerismGene: MNS1
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
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.
Created: 2 May 2020, 2:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Heterotaxy; male infertility
Variants in this GENE are reported as part of current diagnostic practice
Gene: mns1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MNS1.
Publications for gene: MNS1 were set to 31534215; 30148830
Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy, visceral, 9, autosomal, with male infertility, 618948
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