Heterotaxy
Gene: MNS1
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: LiteratureCreated: 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
Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948
Gene: mns1 has been classified as Green List (High Evidence).
Gene: mns1 has been classified as Green List (High Evidence).
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