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| Infertility and Recurrent Pregnancy Loss v0.228 | POLG | Zornitza Stark Marked gene: POLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.228 | POLG | Zornitza Stark Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.228 | POLG | Zornitza Stark Phenotypes for gene: POLG were changed from Premature ovarian failure to POLG-related disorders; Premature ovarian failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.227 | POLG | Zornitza Stark Classified gene: POLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.227 | POLG | Zornitza Stark Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | POLG |
Jasmine Chew gene: POLG was added gene: POLG was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG were set to 29992832; 16595552; 22405928; 20701905 Phenotypes for gene: POLG were set to Premature ovarian failure Review for gene: POLG was set to GREEN Added comment: POLG-related disorders and mitochondrial diseases i) PMID: 29992832: Identified the first homozygous POLG variant (p.R964C) in a female with ovarian dysfunction and complete fertilization failure undergoing ICSI; previous papers have reported various heterozygous variants in association with POI/POF. ii) PMID: 16595552- heterozygous p.Y955C and p.R943H variants reported in unrelated patients with premature ovarian failure. iii) PMID: 22405928- heterozygous p.Y951N mutation in POLG was found in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis (a severe form of POF) and 3-methylglutaconic aciduria. iv) PMID: 20701905- heterozygous p.R953C variant in a female with spontaneous POI. Sources: Literature |
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