| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.93 | LHX1 | Zornitza Stark Marked gene: LHX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.93 | LHX1 | Zornitza Stark Gene: lhx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.93 | LHX1 | Zornitza Stark Classified gene: LHX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.93 | LHX1 | Zornitza Stark Gene: lhx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.92 | LHX1 |
Zornitza Stark gene: LHX1 was added gene: LHX1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX1 were set to 41632294; 29527097; 28061432 Phenotypes for gene: LHX1 were set to Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, LHX1-related Review for gene: LHX1 was set to GREEN Added comment: PMID 41632294, PMID 29527097 and PMID 28061432 collectively report six MRKH families with heterozygous LHX1 variants—three low‑level mosaic deletions (c.676_841del), one frameshift truncation, and a missense variant (c.G1108A (p.A370T)) that reduces transcriptional activity. The deletions are de novo mosaic, the frameshift is a predicted null allele, and the missense variant shows functional impairment in a luciferase assay. A mouse Lhx1 knockout reproduces the phenotype. Sources: Literature |
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