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Primary ovarian insufficiency v1.68 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome 210900 to Bloom syndrome, OMIM:210900
Primary ovarian insufficiency v1.67 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Primary ovarian insufficiency v1.65 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Primary ovarian insufficiency v1.64 YTHDC2 Ivone Leong Added comment: Comment on publications: Added new publication submitted by Andrey Gagunashvili. PMID:35138268
Primary ovarian insufficiency v1.64 YTHDC2 Ivone Leong Publications for gene: YTHDC2 were set to 29033321; 29360036
Primary ovarian insufficiency v1.63 YTHDC2 Andrey Gagunashvili edited their review of gene: YTHDC2: Added comment: One more reference on association of YTHDC2 with primary ovarian insufficiency was added; Changed publications to: 29033321, 29360036, 35138268
Primary ovarian insufficiency v1.63 PRDM9 Zornitza Stark gene: PRDM9 was added
gene: PRDM9 was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM9 were set to 34257419
Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency
Review for gene: PRDM9 was set to GREEN
Added comment: 3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination.
Sources: Literature
Primary ovarian insufficiency v1.63 KHDRBS1 Ivone Leong Classified gene: KHDRBS1 as Amber List (moderate evidence)
Primary ovarian insufficiency v1.63 KHDRBS1 Ivone Leong Added comment: Comment on list classification: This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID:28938739 describes 2 cases. There was no details given for the idiopathic POI case.

ClinVar ID: 929733: as there is no further information available about this case I am hesitant in including this as part of the case count.

PMID:29808484. As stated by Zornitza Stark (Australian Genomics), the variant detected in this paper is also not included in the case count.

As there is only 1 case and 1 animal model there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating until more evidence is available.
Primary ovarian insufficiency v1.63 KHDRBS1 Ivone Leong Gene: khdrbs1 has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.62 KHDRBS1 Ivone Leong Tag watchlist tag was added to gene: KHDRBS1.
Primary ovarian insufficiency v1.62 POLR2C Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5).; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Primary ovarian insufficiency v1.62 POLR2C Ivone Leong Classified gene: POLR2C as Amber List (moderate evidence)
Primary ovarian insufficiency v1.62 POLR2C Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5).
Primary ovarian insufficiency v1.62 POLR2C Ivone Leong Gene: polr2c has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.61 POLR2C Ivone Leong Tag watchlist tag was added to gene: POLR2C.
Primary ovarian insufficiency v1.61 POLR3H Ivone Leong Tag watchlist tag was added to gene: POLR3H.
Primary ovarian insufficiency v1.61 POLR3H Ivone Leong Classified gene: POLR3H as Amber List (moderate evidence)
Primary ovarian insufficiency v1.61 POLR3H Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in Gene2Phenotype and it is not present in OMIM. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Primary ovarian insufficiency v1.61 POLR3H Ivone Leong Gene: polr3h has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.60 POLR3H Zornitza Stark gene: POLR3H was added
gene: POLR3H was added to Primary ovarian insufficiency. Sources: Expert Review
Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3H were set to 34794894; 30830215
Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency
Review for gene: POLR3H was set to AMBER
Added comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation.
Sources: Expert Review
Primary ovarian insufficiency v1.60 POLR2C Zornitza Stark gene: POLR2C was added
gene: POLR2C was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Review for gene: POLR2C was set to AMBER
Added comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.
Two missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1).
Sources: Literature
Primary ovarian insufficiency v1.60 KHDRBS1 Zornitza Stark gene: KHDRBS1 was added
gene: KHDRBS1 was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015
Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure
Review for gene: KHDRBS1 was set to GREEN
gene: KHDRBS1 was marked as current diagnostic
Added comment: 4 individuals in 3 unrelated families and a supporting mouse model
PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.
SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)
PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.
PMID: 20881015 - supporting null mouse model. Female mice were subfertile.
Sources: Literature
Primary ovarian insufficiency v1.60 SYCE1 Ivone Leong Classified gene: SYCE1 as Green List (high evidence)
Primary ovarian insufficiency v1.60 SYCE1 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association (2 cases + 1 animal model). Therefore, this gene has been promoted from Amber to Green.
Primary ovarian insufficiency v1.60 SYCE1 Ivone Leong Gene: syce1 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.59 SYCE1 Ivone Leong Added comment: Comment on publications: PMID: 32917591. Authors made knockin mice with the mouse equivalent variant as Q241X seen in PMID:25062452. Both male and female homozygous mutant mice were infertile and replicated the human phenotype.

PMID:34718620. An additional case. Patient is compound heterozygous for variants in SYCE1.
Primary ovarian insufficiency v1.59 SYCE1 Ivone Leong Publications for gene: SYCE1 were set to 25062452
Primary ovarian insufficiency v1.58 SYCE1 Ivone Leong Phenotypes for gene: SYCE1 were changed from Premature ovarian failure 12616947 to ?Premature ovarian failure 12, OMIM:616947
Primary ovarian insufficiency v1.57 C14orf39 Ivone Leong Classified gene: C14orf39 as Green List (high evidence)
Primary ovarian insufficiency v1.57 C14orf39 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. There is now enough evidence to support a gene-disease association (2 cases + 1 animal model). This gene has been promoted to Green.
Primary ovarian insufficiency v1.57 C14orf39 Ivone Leong Gene: c14orf39 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.56 C14orf39 Ivone Leong Publications for gene: C14orf39 were set to 33508233; 27796301
Primary ovarian insufficiency v1.55 C14orf39 Andrey Gagunashvili reviewed gene: C14orf39: Rating: ; Mode of pathogenicity: None; Publications: 34718620; Phenotypes: Premature ovarian failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency v1.55 SYCE1 Andrey Gagunashvili reviewed gene: SYCE1: Rating: ; Mode of pathogenicity: None; Publications: 34718620; Phenotypes: Premature ovarian failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency v1.55 FMR1 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Primary ovarian insufficiency v1.55 FMR1 Arina Puzriakova Mode of inheritance for gene: FMR1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Primary ovarian insufficiency v1.54 FMR1_CGG Arina Puzriakova Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624 to Premature ovarian failure 1, OMIM:311360
Primary ovarian insufficiency v1.53 FMR1 Arina Puzriakova Phenotypes for gene: FMR1 were changed from Fragile X syndrome, 300624; Fragile X tremor ataxia syndrome, 300623; Premature ovarian failure 1, 311360; Premature Ovarian Insufficiency to Premature ovarian failure 1, OMIM:311360
Primary ovarian insufficiency v1.52 CYP19A1 Arina Puzriakova Phenotypes for gene: CYP19A1 were changed from Aromatase deficiency 613546 to Aromatase deficiency, OMIM:613546
Primary ovarian insufficiency v1.51 GGPS1 Ivone Leong Classified gene: GGPS1 as Green List (high evidence)
Primary ovarian insufficiency v1.51 GGPS1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green according to my previous review.
Primary ovarian insufficiency v1.51 GGPS1 Ivone Leong Gene: ggps1 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.50 GGPS1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.

PMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.

There is enough evidence to support a gene-disease association. This gene should be Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.

PMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.

There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Primary ovarian insufficiency v1.50 GGPS1 Ivone Leong Tag Q4_21_rating was removed from gene: GGPS1.
Primary ovarian insufficiency v1.50 GGPS1 Ivone Leong Entity copied from Congenital muscular dystrophy v2.18
Primary ovarian insufficiency v1.50 GGPS1 Ivone Leong gene: GGPS1 was added
gene: GGPS1 was added to Primary ovarian insufficiency. Sources: Literature,Expert Review Amber
Q4_21_rating tags were added to gene: GGPS1.
Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGPS1 were set to 32403198
Phenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
Primary ovarian insufficiency v1.49 ZSWIM7 Ivone Leong Classified gene: ZSWIM7 as Red List (low evidence)
Primary ovarian insufficiency v1.49 ZSWIM7 Ivone Leong Added comment: Comment on list classification: New gene added by Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Currently there is only 1 case (2 affected sisters) with POI associated with this gene. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Primary ovarian insufficiency v1.49 ZSWIM7 Ivone Leong Gene: zswim7 has been classified as Red List (Low Evidence).
Primary ovarian insufficiency v1.48 YTHDC2 Ivone Leong Classified gene: YTHDC2 as Red List (low evidence)
Primary ovarian insufficiency v1.48 YTHDC2 Ivone Leong Added comment: Comment on list classification: New gene added by Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There currently does not appear to be any human cases associated with this gene therefore this gene has been given a Red rating.
Primary ovarian insufficiency v1.48 YTHDC2 Ivone Leong Gene: ythdc2 has been classified as Red List (Low Evidence).
Primary ovarian insufficiency v1.47 YTHDC2 Andrey Gagunashvili gene: YTHDC2 was added
gene: YTHDC2 was added to Primary ovarian insufficiency. Sources: Literature,Research
Mode of inheritance for gene: YTHDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YTHDC2 were set to 29033321; 29360036
Phenotypes for gene: YTHDC2 were set to Premature ovarian insufficiency; female infertility; absent puberty; primary amenorrhea
Penetrance for gene: YTHDC2 were set to Complete
Review for gene: YTHDC2 was set to RED
Added comment: Sources: Literature, Research
Primary ovarian insufficiency v1.47 ZSWIM7 Andrey Gagunashvili changed review comment from: Sources: Literature, Research; to: Sources: Literature
Primary ovarian insufficiency v1.47 ZSWIM7 Andrey Gagunashvili edited their review of gene: ZSWIM7: Changed rating: RED
Primary ovarian insufficiency v1.47 ZSWIM7 Andrey Gagunashvili gene: ZSWIM7 was added
gene: ZSWIM7 was added to Primary ovarian insufficiency. Sources: Literature,Research
Mode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZSWIM7 were set to 34402903
Phenotypes for gene: ZSWIM7 were set to Primary ovarian insufficiency; absent puberty; primary amenorrhea
Penetrance for gene: ZSWIM7 were set to Complete
Mode of pathogenicity for gene: ZSWIM7 was set to Other
Review for gene: ZSWIM7 was set to AMBER
Added comment: Sources: Literature, Research
Primary ovarian insufficiency v1.47 HARS2 Ivone Leong Classified gene: HARS2 as Green List (high evidence)
Primary ovarian insufficiency v1.47 HARS2 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is now enough evidence to support a gene-disease association. Therefore this gene has been promoted to Green.
Primary ovarian insufficiency v1.47 HARS2 Ivone Leong Gene: hars2 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.46 HARS2 Ivone Leong Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, 614926 to Perrault syndrome 2, OMIM:614926
Primary ovarian insufficiency v1.45 HARS2 Ivone Leong Publications for gene: HARS2 were set to 21464306
Primary ovarian insufficiency v1.44 HARS2 Bill Newman reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID:34406847, 34338890); Phenotypes: sensorineural hearing loss, primary ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency v1.44 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia-telangiectasia 208900 to Ataxia-telangiectasia, OMIM:208900
Primary ovarian insufficiency v1.43 FANCM Ivone Leong Classified gene: FANCM as Green List (high evidence)
Primary ovarian insufficiency v1.43 FANCM Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence for this gene to be rated Green.
Primary ovarian insufficiency v1.43 FANCM Ivone Leong Gene: fancm has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.42 FANCM Ivone Leong Phenotypes for gene: FANCM were changed from Premature ovarian failure to ?Premature ovarian failure 15, OMIM:618096
Primary ovarian insufficiency v1.41 EIF4ENIF1 Ivone Leong Tag watchlist tag was added to gene: EIF4ENIF1.
Primary ovarian insufficiency v1.41 EIF4ENIF1 Ivone Leong Classified gene: EIF4ENIF1 as Amber List (moderate evidence)
Primary ovarian insufficiency v1.41 EIF4ENIF1 Ivone Leong Added comment: Comment on list classification: Gene is not assiciated with a phenotype in OMIM or Gene2Phenotype. Gene will be kept as Amber until more evidence is available.
Primary ovarian insufficiency v1.41 EIF4ENIF1 Ivone Leong Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.40 EIF4ENIF1 Ivone Leong Deleted their review
Primary ovarian insufficiency v1.40 NANOS3 Ivone Leong Added comment: Comment on publications: Added new publication.
Primary ovarian insufficiency v1.40 NANOS3 Ivone Leong Publications for gene: NANOS3 were set to 24091668; 25054146; 28076512
Primary ovarian insufficiency v1.39 NANOS3 Ivone Leong Publications for gene: NANOS3 were set to 24091668; 25054146
Primary ovarian insufficiency v1.38 NANOS3 Ivone Leong Publications for gene: NANOS3 were set to 24091668
Primary ovarian insufficiency v1.37 MSH4 Ivone Leong Classified gene: MSH4 as Green List (high evidence)
Primary ovarian insufficiency v1.37 MSH4 Ivone Leong Gene: msh4 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.36 MSH4 Ivone Leong gene: MSH4 was added
gene: MSH4 was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH4 were set to 28541421; 10809667; 33437391; 33448284
Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; primary ovarian failure, MONDO:0005387; non-obstructive azoospermia
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID:28541421. 1 family affected by POI (NM_002440.3: c.2355+1G>A). Parents are heterozygous for the variant and 2 daughters (3 daughters and 2 sons in total) are homozygous for variant and diagnosed with POI. Variant causes exon skipping.

PMID:10809667. Msh4 knockout mouse model. Mice were viable except for low testicular weight. -/- males were infertile. -/- females, most oocytes were lost from ovaries shortly after birth.

PMID:33437391. Han Chinese patient with non-obstructive azoospermia (NOA) from a consanguineous family. Patient had homozygous variant in MSH4 (c.1552C>T:p.Q518X) and parents are heterozygous carriers.

PMID:33448284. Consanguineous family with 14 children. 2 women have been diagnosed with POI, 3 men with NOA and 1 man with oligozoospermia. All affected individuals are homozygous for variant in MSH4 (S754L).

There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Sources: Literature
Primary ovarian insufficiency v1.35 MSH5 Ivone Leong Tag watchlist tag was added to gene: MSH5.
Primary ovarian insufficiency v1.35 MSH5 Ivone Leong Classified gene: MSH5 as Amber List (moderate evidence)
Primary ovarian insufficiency v1.35 MSH5 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Primary ovarian insufficiency v1.35 MSH5 Ivone Leong Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.34 MSH5 Ivone Leong Phenotypes for gene: MSH5 were changed from ?Premature ovarian failure 13 617442 to ?Premature ovarian failure 13, OMIM:617442
Primary ovarian insufficiency v1.33 MSH5 Ivone Leong Publications for gene: MSH5 were set to 28175301
Primary ovarian insufficiency v1.32 EIF4ENIF1 Ivone Leong Classified gene: EIF4ENIF1 as Green List (high evidence)
Primary ovarian insufficiency v1.32 EIF4ENIF1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is 3 unrelated cases associated with this gene, therefore there is enough evidence to support a gene-disease association.
Primary ovarian insufficiency v1.32 EIF4ENIF1 Ivone Leong Gene: eif4enif1 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.31 EIF4ENIF1 Ivone Leong Publications for gene: EIF4ENIF1 were set to 23902945
Primary ovarian insufficiency v1.30 DIAPH2 Ivone Leong Classified gene: DIAPH2 as Red List (low evidence)
Primary ovarian insufficiency v1.30 DIAPH2 Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red based on expert review.
Primary ovarian insufficiency v1.30 DIAPH2 Ivone Leong Gene: diaph2 has been classified as Red List (Low Evidence).
Primary ovarian insufficiency v1.29 DIAPH2 Ivone Leong Phenotypes for gene: DIAPH2 were changed from Premature ovarian failure,300511 to ?Premature ovarian failure 2A, OMIM:300511
Primary ovarian insufficiency v1.28 DIAPH2 Ivone Leong Publications for gene: DIAPH2 were set to 9497258
Primary ovarian insufficiency v1.27 HSF2BP Ivone Leong Classified gene: HSF2BP as Red List (low evidence)
Primary ovarian insufficiency v1.27 HSF2BP Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support gene-disease association. This gene has been given a Red rating.
Primary ovarian insufficiency v1.27 HSF2BP Ivone Leong Gene: hsf2bp has been classified as Red List (Low Evidence).
Primary ovarian insufficiency v1.26 HSF2BP Ivone Leong Phenotypes for gene: HSF2BP were changed from Premature ovarian failure, OMIM#619245 to Premature ovarian failure 19, OMIM:619245
Primary ovarian insufficiency v1.25 C14orf39 Ivone Leong Classified gene: C14orf39 as Amber List (moderate evidence)
Primary ovarian insufficiency v1.25 C14orf39 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Primary ovarian insufficiency v1.25 C14orf39 Ivone Leong Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.24 C14orf39 Ivone Leong Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to ?Premature ovarian failure 18, OMIM:619203
Primary ovarian insufficiency v1.23 BUB1B Ivone Leong Classified gene: BUB1B as Amber List (moderate evidence)
Primary ovarian insufficiency v1.23 BUB1B Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Primary ovarian insufficiency v1.23 BUB1B Ivone Leong Gene: bub1b has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.22 HSF2BP Zornitza Stark gene: HSF2BP was added
gene: HSF2BP was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSF2BP were set to 32845237
Phenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245
Review for gene: HSF2BP was set to RED
Added comment: Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: Literature
Primary ovarian insufficiency v1.22 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 615300 to Perrault syndrome 4, OMIM:615300
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Classified gene: SYCP2L as Amber List (moderate evidence)
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Added comment: Comment on list classification: Only 2 unrelated individuals in literature at present (PMID:32303603) and therefore rating Amber until further cases are reported.
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.20 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Primary ovarian insufficiency v1.19 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Primary ovarian insufficiency v1.19 BMPR1B-AS1 Arina Puzriakova Tag curated_removed tag was added to gene: BMPR1B-AS1.
Primary ovarian insufficiency v1.19 C14orf39 Zornitza Stark gene: C14orf39 was added
gene: C14orf39 was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to 33508233; 27796301
Phenotypes for gene: C14orf39 were set to Premature ovarian insufficiency
Review for gene: C14orf39 was set to AMBER
Added comment: PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC

PMID: 27796301
- Mouse K/O with ovarian failure
Sources: Literature
Primary ovarian insufficiency v1.19 NANOS3 Zornitza Stark reviewed gene: NANOS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25054146, 24091668; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary ovarian insufficiency v1.19 MSH5 Zornitza Stark reviewed gene: MSH5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28175301, 9916805, 24970489; Phenotypes: Premature ovarian failure 13 MIM#617442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency v1.19 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 30075111; 29895858; 28837162
Phenotypes for gene: FANCM were set to Premature ovarian failure
Review for gene: FANCM was set to GREEN
Added comment: 2 Finnish sisters with non-syndromic POI with a homozygous mutation (p.Gln1701*), and supporting functional assays. 1 case with 2 truncating variants (phase unknown) and non-syndromic POI and MMC chromosome-induced breakage. 3/5 women with homozygous truncating variants and breast cancer also reported early menopause or ovarian insufficiency. Null mouse model demonstrates significant reduction in ovarian follicles.
Sources: Literature
Primary ovarian insufficiency v1.19 EIF4ENIF1 Zornitza Stark reviewed gene: EIF4ENIF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31810472, 23902945, 33095795; Phenotypes: 31810472, 23902945, 33095795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary ovarian insufficiency v1.19 DIAPH2 Zornitza Stark reviewed gene: DIAPH2: Rating: RED; Mode of pathogenicity: None; Publications: 9497258, 30689869, 26175800, 11129329; Phenotypes: Premature ovarian failure 2A MIM#300511; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary ovarian insufficiency v1.19 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: BUB1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BUB1B were set to 32716490
Phenotypes for gene: BUB1B were set to Premature ovarian failure
Review for gene: BUB1B was set to AMBER
Added comment: The association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300 is well established.

Moderate evidence for association between mono-allelic variants and POF, PMID 32716490
Sources: Literature
Primary ovarian insufficiency v1.17 Ellen McDonagh Panel types changed to Rare Disease 100K
Primary ovarian insufficiency v1.14 FMR1_CGG Louise Daugherty Classified STR: FMR1_CGG as No list
Primary ovarian insufficiency v1.14 FMR1_CGG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Primary ovarian insufficiency v1.14 FMR1_CGG Louise Daugherty Str: fmr1_cgg has been removed from the panel.
Primary ovarian insufficiency v1.13 Ellen McDonagh Panel name changed from Early onset familial premature ovarian insufficiency to Primary ovarian insufficiency
List of related panels changed from Early onset familial premature ovarian failure to Early onset familial premature ovarian insufficiency; Early onset familial premature ovarian failure
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Primary ovarian insufficiency FMR1 Ellen McDonagh commented on STR: FMR1_CGG
Primary ovarian insufficiency FMR1 Ellen McDonagh edited their review of STR: FMR1_CGG
Primary ovarian insufficiency FMR1 Ellen McDonagh Added STR to panel
Primary ovarian insufficiency PGRMC1 Louise Daugherty commented on PGRMC1
Primary ovarian insufficiency ERAL1 Sarah Leigh added ERAL1 to panel
Primary ovarian insufficiency ERAL1 Sarah Leigh reviewed ERAL1
Primary ovarian insufficiency BMPR1B-AS1 Ellen McDonagh classified BMPR1B-AS1 as grey
Primary ovarian insufficiency BMPR1B-AS1 Ellen McDonagh commented on BMPR1B-AS1
Primary ovarian insufficiency BMPR1B Ellen McDonagh classified BMPR1B as amber
Primary ovarian insufficiency BMPR1B Ellen McDonagh commented on BMPR1B
Primary ovarian insufficiency MSH5 Ellen McDonagh added MSH5 to panel
Primary ovarian insufficiency MSH5 Ellen McDonagh reviewed MSH5
Primary ovarian insufficiency BMPR1B Helen Savage commented on BMPR1B
Primary ovarian insufficiency BMPR1B Helen Savage added BMPR1B to panel
Primary ovarian insufficiency BMPR1B Helen Savage reviewed BMPR1B
Primary ovarian insufficiency BMPR1B-AS1 Helen Savage reviewed BMPR1B-AS1
Primary ovarian insufficiency RECQL4 Arianna Tucci marked RECQL4 as ready
Primary ovarian insufficiency RECQL4 Arianna Tucci classified RECQL4 as red
Primary ovarian insufficiency NBN Arianna Tucci marked NBN as ready
Primary ovarian insufficiency NBN Arianna Tucci classified NBN as red
Primary ovarian insufficiency ATM Arianna Tucci marked ATM as ready
Primary ovarian insufficiency ATM Arianna Tucci classified ATM as red
Primary ovarian insufficiency NANOS3 Louise IZATT edited their review of NANOS3
Primary ovarian insufficiency NANOS3 Louise IZATT reviewed NANOS3
Primary ovarian insufficiency FANCA Louise IZATT reviewed FANCA
Primary ovarian insufficiency FANCC Louise IZATT reviewed FANCC
Primary ovarian insufficiency BLM Louise IZATT commented on BLM
Primary ovarian insufficiency WRN Louise IZATT reviewed WRN
Primary ovarian insufficiency RECQL4 Louise IZATT reviewed RECQL4
Primary ovarian insufficiency NBN Louise IZATT edited their review of NBN
Primary ovarian insufficiency ATM Louise IZATT reviewed ATM
Primary ovarian insufficiency FANCG Louise IZATT reviewed FANCG
Primary ovarian insufficiency EIF2B2 Louise IZATT reviewed EIF2B2
Primary ovarian insufficiency WRN Louise IZATT reviewed WRN
Primary ovarian insufficiency FOXO4 Louise IZATT reviewed FOXO4
Primary ovarian insufficiency FMR1 Louise IZATT reviewed FMR1
Primary ovarian insufficiency STAG3 Louise IZATT reviewed STAG3
Primary ovarian insufficiency SOHLH1 Louise IZATT reviewed SOHLH1
Primary ovarian insufficiency RECQL4 Louise IZATT edited their review of RECQL4
Primary ovarian insufficiency RECQL4 Louise IZATT reviewed RECQL4
Primary ovarian insufficiency ATM Louise IZATT reviewed ATM
Primary ovarian insufficiency POLG Louise IZATT reviewed POLG
Primary ovarian insufficiency PMM2 Louise IZATT reviewed PMM2
Primary ovarian insufficiency GALT Louise IZATT reviewed GALT
Primary ovarian insufficiency NR5A1 Louise IZATT reviewed NR5A1
Primary ovarian insufficiency NOBOX Louise IZATT reviewed NOBOX
Primary ovarian insufficiency NBN Louise IZATT reviewed NBN
Primary ovarian insufficiency MCM9 Louise IZATT reviewed MCM9
Primary ovarian insufficiency MCM8 Louise IZATT reviewed MCM8
Primary ovarian insufficiency LARS2 Louise IZATT reviewed LARS2
Primary ovarian insufficiency HSD17B4 Louise IZATT reviewed HSD17B4
Primary ovarian insufficiency HFM1 Louise IZATT reviewed HFM1
Primary ovarian insufficiency GALT Louise IZATT reviewed GALT
Primary ovarian insufficiency FSHR Louise IZATT commented on FSHR
Primary ovarian insufficiency FSHB Louise IZATT commented on FSHB
Primary ovarian insufficiency FOXL2 Louise IZATT commented on FOXL2
Primary ovarian insufficiency EIF2B5 Louise IZATT reviewed EIF2B5
Primary ovarian insufficiency CYP19A1 Louise IZATT commented on CYP19A1
Primary ovarian insufficiency CYP17A1 Louise IZATT commented on CYP17A1
Primary ovarian insufficiency CLPP Louise IZATT commented on CLPP
Primary ovarian insufficiency C10orf2 Louise IZATT commented on C10orf2
Primary ovarian insufficiency C10orf2 Louise IZATT reviewed C10orf2
Primary ovarian insufficiency BMP15 Louise IZATT reviewed BMP15
Primary ovarian insufficiency ATM Louise IZATT edited their review of ATM
Primary ovarian insufficiency ATM Louise IZATT reviewed ATM
Primary ovarian insufficiency AARS2 Louise IZATT reviewed AARS2
Primary ovarian insufficiency Arianna Tucci promoted panel to version 1
Primary ovarian insufficiency CYP19A1 Arianna Tucci marked CYP19A1 as ready
Primary ovarian insufficiency CYP19A1 Arianna Tucci classified CYP19A1 as green
Primary ovarian insufficiency CYP19A1 Arianna Tucci added CYP19A1 to panel
Primary ovarian insufficiency CYP19A1 Arianna Tucci reviewed CYP19A1
Primary ovarian insufficiency CYP17A1 Arianna Tucci marked CYP17A1 as ready
Primary ovarian insufficiency CYP17A1 Arianna Tucci classified CYP17A1 as green
Primary ovarian insufficiency CYP17A1 Arianna Tucci added CYP17A1 to panel
Primary ovarian insufficiency CYP17A1 Arianna Tucci reviewed CYP17A1
Primary ovarian insufficiency WRN Arianna Tucci marked WRN as ready
Primary ovarian insufficiency STAG3 Arianna Tucci classified STAG3 as green
Primary ovarian insufficiency FANCG Arianna Tucci marked FANCG as ready
Primary ovarian insufficiency FANCC Arianna Tucci marked FANCC as ready
Primary ovarian insufficiency FANCC Arianna Tucci marked FANCC as ready
Primary ovarian insufficiency FANCA Arianna Tucci marked FANCA as ready
Primary ovarian insufficiency BLM Arianna Tucci marked BLM as ready
Primary ovarian insufficiency BLM Arianna Tucci marked BLM as ready
Primary ovarian insufficiency SYCE1 Arianna Tucci marked SYCE1 as ready
Primary ovarian insufficiency SYCE1 Arianna Tucci marked SYCE1 as ready
Primary ovarian insufficiency SYCE1 Arianna Tucci commented on SYCE1
Primary ovarian insufficiency SYCE1 Arianna Tucci classified SYCE1 as amber
Primary ovarian insufficiency STAG3 Arianna Tucci marked STAG3 as ready
Primary ovarian insufficiency SOHLH2 Arianna Tucci marked SOHLH2 as ready
Primary ovarian insufficiency SOHLH2 Arianna Tucci classified SOHLH2 as amber
Primary ovarian insufficiency SOHLH1 Arianna Tucci marked SOHLH1 as ready
Primary ovarian insufficiency SOHLH1 Arianna Tucci classified SOHLH1 as green
Primary ovarian insufficiency SOHLH1 Arianna Tucci classified SOHLH1 as amber
Primary ovarian insufficiency SGOL2 Arianna Tucci marked SGOL2 as ready
Primary ovarian insufficiency SGOL2 Arianna Tucci marked SGOL2 as ready
Primary ovarian insufficiency SGOL2 Arianna Tucci classified SGOL2 as amber
Primary ovarian insufficiency RECQL4 Arianna Tucci marked RECQL4 as ready
Primary ovarian insufficiency RECQL4 Arianna Tucci classified RECQL4 as green
Primary ovarian insufficiency PMM2 Arianna Tucci classified PMM2 as green
Primary ovarian insufficiency RCBTB1 Arianna Tucci marked RCBTB1 as ready
Primary ovarian insufficiency RCBTB1 Arianna Tucci classified RCBTB1 as amber
Primary ovarian insufficiency PSMC3IP Arianna Tucci marked PSMC3IP as ready
Primary ovarian insufficiency PSMC3IP Arianna Tucci classified PSMC3IP as amber
Primary ovarian insufficiency POU5F1 Arianna Tucci marked POU5F1 as ready
Primary ovarian insufficiency POU5F1 Arianna Tucci marked POU5F1 as ready
Primary ovarian insufficiency POU5F1 Arianna Tucci classified POU5F1 as amber
Primary ovarian insufficiency POLG Arianna Tucci marked POLG as ready
Primary ovarian insufficiency POLG Arianna Tucci classified POLG as green
Primary ovarian insufficiency PMM2 Arianna Tucci marked PMM2 as ready
Primary ovarian insufficiency PGRMC1 Arianna Tucci marked PGRMC1 as ready
Primary ovarian insufficiency PGRMC1 Arianna Tucci classified PGRMC1 as amber
Primary ovarian insufficiency NUP107 Arianna Tucci marked NUP107 as ready
Primary ovarian insufficiency NUP107 Arianna Tucci classified NUP107 as amber
Primary ovarian insufficiency NR5A1 Arianna Tucci marked NR5A1 as ready
Primary ovarian insufficiency NR5A1 Arianna Tucci classified NR5A1 as green
Primary ovarian insufficiency NOG Arianna Tucci marked NOG as ready
Primary ovarian insufficiency NOG Arianna Tucci classified NOG as amber
Primary ovarian insufficiency NBN Arianna Tucci marked NBN as ready
Primary ovarian insufficiency NBN Arianna Tucci classified NBN as green
Primary ovarian insufficiency NANOS3 Arianna Tucci marked NANOS3 as ready
Primary ovarian insufficiency NANOS3 Arianna Tucci classified NANOS3 as amber
Primary ovarian insufficiency GDF9 Arianna Tucci marked GDF9 as ready
Primary ovarian insufficiency GDF9 Arianna Tucci classified GDF9 as amber
Primary ovarian insufficiency EIF2B5 Arianna Tucci marked EIF2B5 as ready
Primary ovarian insufficiency EIF2B5 Arianna Tucci classified EIF2B5 as green
Primary ovarian insufficiency EIF2B4 Arianna Tucci marked EIF2B4 as ready
Primary ovarian insufficiency EIF2B4 Arianna Tucci classified EIF2B4 as amber
Primary ovarian insufficiency EIF2B2 Arianna Tucci marked EIF2B2 as ready
Primary ovarian insufficiency ATM Arianna Tucci marked ATM as ready
Primary ovarian insufficiency ATM Arianna Tucci marked ATM as ready
Primary ovarian insufficiency ATM Arianna Tucci classified ATM as green
Primary ovarian insufficiency WRN Arianna Tucci commented on WRN
Primary ovarian insufficiency SOHLH2 Arianna Tucci commented on SOHLH2
Primary ovarian insufficiency SOHLH1 Arianna Tucci reviewed SOHLH1
Primary ovarian insufficiency SGOL2 Arianna Tucci commented on SGOL2
Primary ovarian insufficiency RECQL4 Arianna Tucci commented on RECQL4
Primary ovarian insufficiency RCBTB1 Arianna Tucci commented on RCBTB1
Primary ovarian insufficiency POU5F1 Arianna Tucci commented on POU5F1
Primary ovarian insufficiency POU5F1 Arianna Tucci commented on POU5F1
Primary ovarian insufficiency NUP107 Arianna Tucci commented on NUP107
Primary ovarian insufficiency NOG Arianna Tucci commented on NOG
Primary ovarian insufficiency NBN Arianna Tucci commented on NBN
Primary ovarian insufficiency NANOS3 Arianna Tucci commented on NANOS3
Primary ovarian insufficiency GDF9 Arianna Tucci commented on GDF9
Primary ovarian insufficiency FANCG Arianna Tucci commented on FANCG
Primary ovarian insufficiency FANCC Arianna Tucci commented on FANCC
Primary ovarian insufficiency FANCA Arianna Tucci commented on FANCA
Primary ovarian insufficiency EIF2B5 Arianna Tucci commented on EIF2B5
Primary ovarian insufficiency EIF2B4 Arianna Tucci commented on EIF2B4
Primary ovarian insufficiency EIF2B2 Arianna Tucci commented on EIF2B2
Primary ovarian insufficiency BLM Arianna Tucci commented on BLM
Primary ovarian insufficiency ATM Arianna Tucci commented on ATM
Primary ovarian insufficiency ATM Arianna Tucci commented on ATM
Primary ovarian insufficiency SGOL2 Arianna Tucci edited their review of SGOL2
Primary ovarian insufficiency SGOL2 Arianna Tucci commented on SGOL2
Primary ovarian insufficiency C10orf2 Arianna Tucci marked C10orf2 as ready
Primary ovarian insufficiency MCM9 Arianna Tucci marked MCM9 as ready
Primary ovarian insufficiency MCM9 Arianna Tucci classified MCM9 as green
Primary ovarian insufficiency MCM8 Arianna Tucci marked MCM8 as ready
Primary ovarian insufficiency MCM8 Arianna Tucci classified MCM8 as green
Primary ovarian insufficiency LMNA Arianna Tucci marked LMNA as ready
Primary ovarian insufficiency LMNA Arianna Tucci classified LMNA as amber
Primary ovarian insufficiency FSHB Arianna Tucci marked FSHB as ready
Primary ovarian insufficiency FSHB Arianna Tucci classified FSHB as green
Primary ovarian insufficiency LARS2 Arianna Tucci marked LARS2 as ready
Primary ovarian insufficiency LARS2 Arianna Tucci classified LARS2 as green
Primary ovarian insufficiency HSD17B4 Arianna Tucci marked HSD17B4 as ready
Primary ovarian insufficiency HSD17B4 Arianna Tucci classified HSD17B4 as green
Primary ovarian insufficiency HFM1 Arianna Tucci marked HFM1 as ready
Primary ovarian insufficiency HFM1 Arianna Tucci classified HFM1 as green
Primary ovarian insufficiency HARS2 Arianna Tucci marked HARS2 as ready
Primary ovarian insufficiency HARS2 Arianna Tucci classified HARS2 as amber
Primary ovarian insufficiency GALT Arianna Tucci marked GALT as ready
Primary ovarian insufficiency GALT Arianna Tucci classified GALT as green
Primary ovarian insufficiency FOXO4 Arianna Tucci marked FOXO4 as ready
Primary ovarian insufficiency EIF4ENIF1 Arianna Tucci marked EIF4ENIF1 as ready
Primary ovarian insufficiency EIF4ENIF1 Arianna Tucci classified EIF4ENIF1 as amber
Primary ovarian insufficiency DIAPH2 Arianna Tucci marked DIAPH2 as ready
Primary ovarian insufficiency DIAPH2 Arianna Tucci classified DIAPH2 as amber
Primary ovarian insufficiency DIAPH2 Arianna Tucci classified DIAPH2 as amber
Primary ovarian insufficiency DACH2 Arianna Tucci marked DACH2 as ready
Primary ovarian insufficiency DACH2 Arianna Tucci classified DACH2 as amber
Primary ovarian insufficiency CLPP Arianna Tucci marked CLPP as ready
Primary ovarian insufficiency CLPP Arianna Tucci classified CLPP as green
Primary ovarian insufficiency C10orf2 Arianna Tucci marked C10orf2 as ready
Primary ovarian insufficiency C10orf2 Arianna Tucci classified C10orf2 as green
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci marked BMPR1B-AS1 as ready
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci classified BMPR1B-AS1 as amber
Primary ovarian insufficiency AARS2 Arianna Tucci marked AARS2 as ready
Primary ovarian insufficiency AARS2 Arianna Tucci classified AARS2 as green
Primary ovarian insufficiency POF1B Arianna Tucci marked POF1B as ready
Primary ovarian insufficiency POF1B Arianna Tucci classified POF1B as amber
Primary ovarian insufficiency NOBOX Arianna Tucci marked NOBOX as ready
Primary ovarian insufficiency NOBOX Arianna Tucci classified NOBOX as green
Primary ovarian insufficiency FSHR Arianna Tucci marked FSHR as ready
Primary ovarian insufficiency FSHR Arianna Tucci classified FSHR as green
Primary ovarian insufficiency FOXL2 Arianna Tucci marked FOXL2 as ready
Primary ovarian insufficiency FOXL2 Arianna Tucci classified FOXL2 as green
Primary ovarian insufficiency FOXL2 Arianna Tucci classified FOXL2 as green
Primary ovarian insufficiency FMR1 Arianna Tucci marked FMR1 as ready
Primary ovarian insufficiency FMR1 Arianna Tucci classified FMR1 as red
Primary ovarian insufficiency FMR1 Arianna Tucci classified FMR1 as amber
Primary ovarian insufficiency FIGLA Arianna Tucci marked FIGLA as ready
Primary ovarian insufficiency BMP15 Arianna Tucci marked BMP15 as ready
Primary ovarian insufficiency BMP15 Arianna Tucci classified BMP15 as green
Primary ovarian insufficiency HSD17B4 Arianna Tucci added HSD17B4 to panel
Primary ovarian insufficiency HSD17B4 Arianna Tucci reviewed HSD17B4
Primary ovarian insufficiency CLPP Arianna Tucci added CLPP to panel
Primary ovarian insufficiency CLPP Arianna Tucci reviewed CLPP
Primary ovarian insufficiency AARS2 Arianna Tucci added AARS2 to panel
Primary ovarian insufficiency AARS2 Arianna Tucci reviewed AARS2
Primary ovarian insufficiency HARS2 Arianna Tucci added HARS2 to panel
Primary ovarian insufficiency HARS2 Arianna Tucci reviewed HARS2
Primary ovarian insufficiency LARS2 Arianna Tucci added LARS2 to panel
Primary ovarian insufficiency LARS2 Arianna Tucci reviewed LARS2
Primary ovarian insufficiency C10orf2 Arianna Tucci added C10orf2 to panel
Primary ovarian insufficiency C10orf2 Arianna Tucci reviewed C10orf2
Primary ovarian insufficiency POLG Arianna Tucci added POLG to panel
Primary ovarian insufficiency POLG Arianna Tucci reviewed POLG
Primary ovarian insufficiency FSHB Arianna Tucci added FSHB to panel
Primary ovarian insufficiency FSHB Arianna Tucci reviewed FSHB
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci added BMPR1B-AS1 to panel
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci reviewed BMPR1B-AS1
Primary ovarian insufficiency PMM2 Arianna Tucci added PMM2 to panel
Primary ovarian insufficiency PMM2 Arianna Tucci reviewed PMM2
Primary ovarian insufficiency GALT Arianna Tucci added GALT to panel
Primary ovarian insufficiency GALT Arianna Tucci reviewed GALT
Primary ovarian insufficiency DACH2 Arianna Tucci edited their review of DACH2
Primary ovarian insufficiency DACH2 Arianna Tucci added DACH2 to panel
Primary ovarian insufficiency DACH2 Arianna Tucci reviewed DACH2
Primary ovarian insufficiency FOXO4 Arianna Tucci added FOXO4 to panel
Primary ovarian insufficiency FOXO4 Arianna Tucci reviewed FOXO4
Primary ovarian insufficiency PGRMC1 Arianna Tucci added PGRMC1 to panel
Primary ovarian insufficiency PGRMC1 Arianna Tucci reviewed PGRMC1
Primary ovarian insufficiency STAG3 Arianna Tucci reviewed STAG3
Primary ovarian insufficiency PSMC3IP Arianna Tucci reviewed PSMC3IP
Primary ovarian insufficiency NR5A1 Arianna Tucci reviewed NR5A1
Primary ovarian insufficiency MCM9 Arianna Tucci added MCM9 to panel
Primary ovarian insufficiency MCM9 Arianna Tucci reviewed MCM9
Primary ovarian insufficiency MCM8 Arianna Tucci reviewed MCM8
Primary ovarian insufficiency LMNA Arianna Tucci reviewed LMNA
Primary ovarian insufficiency HFM1 Arianna Tucci reviewed HFM1
Primary ovarian insufficiency FOXL2 Arianna Tucci reviewed FOXL2
Primary ovarian insufficiency EIF4ENIF1 Arianna Tucci reviewed EIF4ENIF1
Primary ovarian insufficiency DIAPH2 Arianna Tucci edited their review of DIAPH2
Primary ovarian insufficiency DIAPH2 Arianna Tucci reviewed DIAPH2
Primary ovarian insufficiency POF1B Arianna Tucci reviewed POF1B
Primary ovarian insufficiency NOBOX Arianna Tucci reviewed NOBOX
Primary ovarian insufficiency FSHR Arianna Tucci reviewed FSHR
Primary ovarian insufficiency FMR1 Arianna Tucci reviewed FMR1
Primary ovarian insufficiency FIGLA Arianna Tucci reviewed FIGLA
Primary ovarian insufficiency BMP15 Arianna Tucci reviewed BMP15
Primary ovarian insufficiency FMR1 Alice Gardham commented on FMR1