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| Infertility and Recurrent Pregnancy Loss v0.230 | GALT | Zornitza Stark Marked gene: GALT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.230 | GALT | Zornitza Stark Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.230 | GALT | Zornitza Stark Phenotypes for gene: GALT were changed from Premature ovarian failure to Galactosaemia, MIM# 230400; Premature ovarian failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.147 | GALT | Zornitza Stark Classified gene: GALT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.147 | GALT | Zornitza Stark Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | GALT |
Jasmine Chew changed review comment from: Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with classic galactosaemia (CG) due to a significant decline in ovarian reserve (primordial follicle pool). The definite mechanisms underlying the early onset of POI in CG patients are not fully understood. (PMID: 39440457). FeRGI database- moderate evidence for POI- PMID:19733849, 34433538, 31042289. Other paper: i) PMID: 34730073- a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. Sources: Literature; to: Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with classic galactosaemia (CG) due to a significant decline in ovarian reserve (primordial follicle pool). The definite mechanisms underlying the early onset of POI in CG patients are not fully understood. (PMID: 39440457). FeRGI database- moderate evidence for POI- PMID:19733849, 34433538, 31042289 (Reported biallelic variants) Other paper: i) PMID: 34730073- a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.103 | GALT |
Jasmine Chew gene: GALT was added gene: GALT was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 39440457; 19733849; 34433538; 31042289; 34730073 Phenotypes for gene: GALT were set to Premature ovarian failure Review for gene: GALT was set to GREEN Added comment: Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with classic galactosaemia (CG) due to a significant decline in ovarian reserve (primordial follicle pool). The definite mechanisms underlying the early onset of POI in CG patients are not fully understood. (PMID: 39440457). FeRGI database- moderate evidence for POI- PMID:19733849, 34433538, 31042289. Other paper: i) PMID: 34730073- a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. Sources: Literature |
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