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| Infertility and Recurrent Pregnancy Loss v0.30 | AARS2 | Zornitza Stark Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.30 | AARS2 | Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.30 | AARS2 | Zornitza Stark Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.30 | AARS2 | Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | AARS2 | Jasmine Chew edited their review of gene: AARS2: Changed phenotypes: Progressive leukoencephalopathy with ovarian failure, MIM# 615889 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | AARS2 |
Jasmine Chew gene: AARS2 was added gene: AARS2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 24808023; 32775515; 31280959; 29749055 Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, MIM# 615889 Review for gene: AARS2 was set to GREEN Added comment: Literature in OMIM- PMID:24808023- compound heterozygous missense variants in 5 women with premature ovarian failure among 6 with progressive leukoencephalopathy, and studies of the yeast homologs of 2 variants (F50C and R521X) showed that they resulted in a complete or partial loss of protein function. New papers- case reports of biallelic variants in patients with POIPOF - PMID:32775515; 31280959; 29749055 Sources: Literature |
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