Activity
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| Primary ovarian insufficiency v1.37 | MSH4 | Ivone Leong Classified gene: MSH4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.37 | MSH4 | Ivone Leong Gene: msh4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.36 | MSH4 |
Ivone Leong gene: MSH4 was added gene: MSH4 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH4 were set to 28541421; 10809667; 33437391; 33448284 Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; primary ovarian failure, MONDO:0005387; non-obstructive azoospermia Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID:28541421. 1 family affected by POI (NM_002440.3: c.2355+1G>A). Parents are heterozygous for the variant and 2 daughters (3 daughters and 2 sons in total) are homozygous for variant and diagnosed with POI. Variant causes exon skipping. PMID:10809667. Msh4 knockout mouse model. Mice were viable except for low testicular weight. -/- males were infertile. -/- females, most oocytes were lost from ovaries shortly after birth. PMID:33437391. Han Chinese patient with non-obstructive azoospermia (NOA) from a consanguineous family. Patient had homozygous variant in MSH4 (c.1552C>T:p.Q518X) and parents are heterozygous carriers. PMID:33448284. Consanguineous family with 14 children. 2 women have been diagnosed with POI, 3 men with NOA and 1 man with oligozoospermia. All affected individuals are homozygous for variant in MSH4 (S754L). There is enough evidence to support a gene-disease association. This gene has been given a Green rating. Sources: Literature |
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