| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.313 | CLPB | Zornitza Stark Marked gene: CLPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.313 | CLPB | Zornitza Stark Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.313 | CLPB | Zornitza Stark Phenotypes for gene: CLPB were changed from syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271; syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.312 | CLPB | Zornitza Stark Classified gene: CLPB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.312 | CLPB | Zornitza Stark Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 | CLPB |
Elena Tucker gene: CLPB was added gene: CLPB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 36074910 Phenotypes for gene: CLPB were set to syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction Review for gene: CLPB was set to GREEN Added comment: PMID: 36074910 Affected individuals that survive beyond puberty experience premature ovarian insufficiency Sources: Literature |
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