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Mendeliome v0.3109 | SOHLH1 | Bryony Thompson Marked gene: SOHLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3109 | SOHLH1 | Bryony Thompson Gene: sohlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3109 | SOHLH1 | Bryony Thompson Classified gene: SOHLH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3109 | SOHLH1 | Bryony Thompson Gene: sohlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3108 | SOHLH1 |
Bryony Thompson gene: SOHLH1 was added gene: SOHLH1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SOHLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SOHLH1 were set to 25774885; 16690745; 31042289; 20506135; 28718531 Phenotypes for gene: SOHLH1 were set to Ovarian dysgenesis 5 MIM#617690; Spermatogenic failure 32 MIM#618115 Review for gene: SOHLH1 was set to GREEN Added comment: Women in 3 unrelated families with ovarian dysgenesis and homozygous variants, and a supporting null mouse model. At least 4 males with heterozygous variants and spermatogenic failure. Sources: Expert list |