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Primary Ovarian Insufficiency_Premature Ovarian Failure v0.340 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Marked gene: MGA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Classified gene: MGA as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.338 MGA Zornitza Stark gene: MGA was added
gene: MGA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MGA were set to 39545409
Phenotypes for gene: MGA were set to Premature ovarian failure 26, MIM# 621065
Review for gene: MGA was set to AMBER
Added comment: Association with POF: LoF variants enriched in a large POF cohort. Familial testing in a small number of families performed. Mouse model supportive. Also borderline Amber/Green. Amber rating until phenotypes and mechanisms of disease for these two associations clarified.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.336 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.335 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.334 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 C17orf53 Zornitza Stark Marked gene: C17orf53 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 C17orf53 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HROB.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 C17orf53 Zornitza Stark Tag new gene name tag was added to gene: C17orf53.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 C17orf53 Zornitza Stark Phenotypes for gene: C17orf53 were changed from Primary ovarian insufficiency to Ovarian dysgenesis 11, MIM# 620897
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.332 C17orf53 Zornitza Stark Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.331 C17orf53 Zornitza Stark Classified gene: C17orf53 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.331 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.330 C17orf53 Zornitza Stark reviewed gene: C17orf53: Rating: GREEN; Mode of pathogenicity: None; Publications: 38105698; Phenotypes: Ovarian dysgenesis 11, MIM# 620897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.330 SYCP2L Zornitza Stark Publications for gene: SYCP2L were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.329 SYCP2L Zornitza Stark Classified gene: SYCP2L as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.329 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 SYCP2L Elena Tucker reviewed gene: SYCP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38521400, PMID: 32303603; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 ZNF483 Zornitza Stark Marked gene: ZNF483 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 ZNF483 Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.328 ZNF483 Zornitza Stark Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.327 ZNF483 Zornitza Stark Classified gene: ZNF483 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.327 ZNF483 Zornitza Stark Gene: znf483 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.326 ZNF483 Mark Cleghorn gene: ZNF483 was added
gene: ZNF483 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ZNF483 was set to Unknown
Publications for gene: ZNF483 were set to 38951643
Phenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387
Penetrance for gene: ZNF483 were set to unknown
Review for gene: ZNF483 was set to AMBER
Added comment: PMID: 38951643, ESHG 2024 presentation
Large cohort assessing PRS for age of menarche
Noted rare PTVs in ZNF483 assoc w earlier menarche
No individual case information in this study
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.326 SYCP2L Zornitza Stark Phenotypes for gene: SYCP2L were changed from Premature ovarian insufficiency to Premature ovarian failure 24, MIM# 620840
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.325 FANCI Ain Roesley edited their review of gene: FANCI: Changed phenotypes: primary ovarian failure MONDO:0005387, FANCI-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.325 FANCI Ain Roesley Marked gene: FANCI as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.325 FANCI Ain Roesley Gene: fanci has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.325 FANCI Ain Roesley Classified gene: FANCI as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.325 FANCI Ain Roesley Gene: fanci has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.324 FANCI Ain Roesley gene: FANCI was added
gene: FANCI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 38483614
Review for gene: FANCI was set to AMBER
gene: FANCI was marked as current diagnostic
Added comment: WES however FANCI was specifically looked at based on KO mouse model which had premature exhaustion of primordial follicles leading to complete sterility.

2x compound hets: 2x missense + 1x canonical splice+1x missense

Minigene performed on the splice variant
Functional assays using KO cells + expression of variant demonstrated reduced ubiquitination of FANCI and increased DNA damage under replication stress
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.323 AXL Zornitza Stark Mode of inheritance for gene: AXL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.322 AXL Zornitza Stark Classified gene: AXL as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.322 AXL Zornitza Stark Gene: axl has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.321 AXL Zornitza Stark reviewed gene: AXL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.321 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, MIM#616185 to Ovarian dysgenesis 4, MIM#616185; Hereditary neoplastic syndrome MONDO:0015356
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.320 MCM9 Zornitza Stark Publications for gene: MCM9 were set to 25480036; 26771056; 33538981; 33095795
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 MCM9 Zornitza Stark edited their review of gene: MCM9: Changed publications: 25480036, 26771056, 33538981, 33095795, 26806154, 34556653, 32841224, 32613604, 37378315; Changed phenotypes: Ovarian dysgenesis 4, MIM# 616185, Hereditary neoplastic syndrome MONDO:0015356
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 MCM9 Zornitza Stark commented on gene: MCM9: Please note emerging link with Lynch-like syndrome: PMIDs 26806154; 34556653; 32841224; 32613604; 37378315
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 EIF4ENIF1 Zornitza Stark Marked gene: EIF4ENIF1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 EIF4ENIF1 Zornitza Stark Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.319 EIF4ENIF1 Zornitza Stark Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.318 DAZL Zornitza Stark Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.317 DACH2 Zornitza Stark Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.316 CPEB1 Zornitza Stark Phenotypes for gene: CPEB1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, CPEB1-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.315 ANKRD31 Zornitza Stark Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKDR31-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley Marked gene: TUFM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley Gene: tufm has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley edited their review of gene: TUFM: Changed publications: 37461298
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley gene: TUFM was added
gene: TUFM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFM were set to 37468454
Phenotypes for gene: TUFM were set to Inherited primary ovarian failure MONDO:0019852, TUFM-related
Review for gene: TUFM was set to RED
gene: TUFM was marked as current diagnostic
Added comment: 1 family with 1 homozygote with NM_172745.3:c.524G>C: p.Gly175Ala)

in vitro functional: reduction in protein expression, decreased mitochondrial membrane potential and increased reactive oxygen species production, inhibits OXPHOS activity and results in impaired autophagy activation

mouse models recapitulates phenotype
Sources: Literature
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 v0.311 MRPL50 Zornitza Stark Marked gene: MRPL50 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 MRPL50 Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 MRPL50 Zornitza Stark Classified gene: MRPL50 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 MRPL50 Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.310 MRPL50 Anna Ritchie gene: MRPL50 was added
gene: MRPL50 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL50 were set to PMID: 37148394
Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related
Review for gene: MRPL50 was set to AMBER
Added comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction.
Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls.
Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants.
Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.310 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 to Premature ovarian failure-21, MIM#620311; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.309 TP63 Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature ovarian failure-21, MIM#620311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.309 MRPS7 Zornitza Stark Marked gene: MRPS7 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.309 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.309 MRPS7 Zornitza Stark Phenotypes for gene: MRPS7 were changed from sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency to Combined oxidative phosphorylation deficiency 34, MIM# 617872; sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.308 MRPS7 Zornitza Stark Classified gene: MRPS7 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.308 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.307 MRPS7 Elena Tucker gene: MRPS7 was added
gene: MRPS7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS7 were set to PMID: 25556185; 36421788
Phenotypes for gene: MRPS7 were set to sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency
Review for gene: MRPS7 was set to AMBER
Added comment: The initial report (PMID: 25556185) describes a homozygous missense variant in two sisters with sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. One sister died in early adolescence but the other survived beyond puberty and had primary ovarian insufficiency. Experimental evidence supported causation of the MRPS7 variant.

The second publication (PMID: 36421788) describes sisters with an overlapping phenotype including sensorineural deafness and premature ovarian insufficiency. They both had compound heterozygous (one missense, one nonsense) MRPS7 variants.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.307 Zornitza Stark HPO terms changed from to Premature ovarian insufficiency, HP:0008209
List of related panels changed from to Premature ovarian insufficiency; HP:0008209
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 C17orf53 Elena Tucker commented on gene: C17orf53: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency
PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.

Additional publication describing a homozygous LOF variant in an individual with POI and corresponding sensitivity to DNA damage elevates confidence in the gene as a cause of POI:
PMID: 36099812
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
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 LHX8 Alison Yeung Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 LHX8 Alison Yeung Classified gene: LHX8 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 LHX8 Alison Yeung Gene: lhx8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 LHX8 Alison Yeung reviewed gene: LHX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 36029299; Phenotypes: Inherited premature ovarian failure, MONDO:0019852, LHX8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 CCDC155 Zornitza Stark Marked gene: CCDC155 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 CCDC155 Zornitza Stark Gene: ccdc155 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 CCDC155 Zornitza Stark Phenotypes for gene: CCDC155 were changed from Non-obstructive azoospermia; Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related to Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.303 CCDC155 Zornitza Stark Classified gene: CCDC155 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.303 CCDC155 Zornitza Stark Gene: ccdc155 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.302 CCDC155 Melanie Marty gene: CCDC155 was added
gene: CCDC155 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: CCDC155 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC155 were set to 35674372; 35708642; 29790874; 35587281
Phenotypes for gene: CCDC155 were set to Non-obstructive azoospermia; Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related
Review for gene: CCDC155 was set to GREEN
Added comment: Current HGNC name is KASH5

Summary: 4 families reported with non-obstructive azoospermia or premature ovarian insufficiency. Functional studies have been performed and mouse models recapitulate the phenotype.

PMID: 35674372 CNV and frameshift variants in KASH5 were identified in a non-obstructive azoospermia affected patient and in his infertile sister by whole-exome sequencing and CNV array. Kash5 knockout mouse displayed similar phenotypes, including a meiotic arrest at a zygotene-like stage and impaired pairing and synapsis.

PMID: 35708642 Hom splice identified in KASH5 in 2 sisters with premature ovarian insufficiency. In vitro studies found the variant disturbed the nuclear membrane localization of KASH5 and its binding with SUN1. Moreover, the Kash5 C-terminal deleted mice revealed defective meiotic homolog pairing and accelerated depletion of oocytes.

PMID: 29790874 2 brothers with non-obstructive azoospermia with hom missense in CCDC155

PMID: 35587281 2 siblings with hom missense in CCDC155 non-obstructive azoospermia and premature ovarian insufficiency.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.302 MSH5 Zornitza Stark Mode of inheritance for gene: MSH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.301 SPATA22 Zornitza Stark Marked gene: SPATA22 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.301 SPATA22 Zornitza Stark Gene: spata22 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.301 SPATA22 Zornitza Stark Phenotypes for gene: SPATA22 were changed from Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM # to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.300 MCM9 Zornitza Stark Marked gene: MCM9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.300 MCM9 Zornitza Stark Gene: mcm9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.300 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, 616185 to Ovarian dysgenesis 4, MIM#616185
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.299 MCM9 Zornitza Stark Publications for gene: MCM9 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.298 MCM9 Zornitza Stark reviewed gene: MCM9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480036, 26771056, 33538981, 33095795; Phenotypes: Ovarian dysgenesis 4, MIM# 616185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.298 MCM8 Zornitza Stark Publications for gene: MCM8 were set to 32652893
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.297 MCM8 Zornitza Stark reviewed gene: MCM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 25437880, 25873734; Phenotypes: Premature ovarian failure 10, MIM# 612885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.297 SPATA22 Chirag Patel Classified gene: SPATA22 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.297 SPATA22 Chirag Patel Gene: spata22 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.296 SPATA22 Chirag Patel gene: SPATA22 was added
gene: SPATA22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA22 were set to PMID: 35285020
Phenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM #
Review for gene: SPATA22 was set to AMBER
Added comment: 1 consanguineous family with two premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA.

2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X).
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.295 PSMC3IP Zornitza Stark Marked gene: PSMC3IP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.295 PSMC3IP Zornitza Stark Gene: psmc3ip has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.295 PSMC3IP Zornitza Stark Phenotypes for gene: PSMC3IP were changed from Ovarian dysgenesis 3,614324 to Ovarian dysgenesis 3, MIM# 614324
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.294 PSMC3IP Zornitza Stark Publications for gene: PSMC3IP were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 PSMC3IP Zornitza Stark reviewed gene: PSMC3IP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963259, 35352317, 34878148, 30406445, 29240891; Phenotypes: Ovarian dysgenesis 3, MIM# 614324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 LHB Alison Yeung Marked gene: LHB as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 LHB Alison Yeung Gene: lhb has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 LHB Alison Yeung Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.292 LHB Alison Yeung Mode of inheritance for gene: LHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.291 LHB Alison Yeung reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.291 PEX6 Zornitza Stark Publications for gene: PEX6 were set to 32399598
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.290 PEX6 Zornitza Stark Classified gene: PEX6 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.290 PEX6 Zornitza Stark Gene: pex6 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.289 HSF2BP Zornitza Stark Publications for gene: HSF2BP were set to 32845237
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.288 HSF2BP Zornitza Stark Classified gene: HSF2BP as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.288 HSF2BP Zornitza Stark Gene: hsf2bp has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 HSF2BP Elena Hateley Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 PEX6 Elena Hateley Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 PEX6 Elena Tucker reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31555682, PMID: 32399598; Phenotypes: syndromic premature ovarian insufficiency, peroxisomal biogenesis disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 PEX6 Elena Hateley reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31555682, PMID: 32399598; Phenotypes: premature ovarian insufficiency, peroxisomal biogenesis disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 HSF2BP Elena Tucker reviewed gene: HSF2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32845237, PMID: 35174157; Phenotypes: premature ovarian insufficiency; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 HSF2BP Elena Hateley reviewed gene: HSF2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35174157, PMID: 32845237; Phenotypes: premature ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 C17orf53 Zornitza Stark Marked gene: C17orf53 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 C17orf53 Zornitza Stark Classified gene: C17orf53 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.286 TFAM Zornitza Stark Marked gene: TFAM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.286 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.286 TFAM Zornitza Stark Phenotypes for gene: TFAM were changed from to Perrault syndrome; primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.285 TFAM Zornitza Stark Publications for gene: TFAM were set to PMID: 34647195
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.284 TFAM Zornitza Stark Classified gene: TFAM as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.284 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 C17orf53 Elena Tucker gene: C17orf53 was added
gene: C17orf53 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087
Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency
Penetrance for gene: C17orf53 were set to Complete
Review for gene: C17orf53 was set to AMBER
Added comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency
PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 TFAM Elena Tucker reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34647195, 32399598; Phenotypes: Perrault syndrome, primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 TFAM Elena Tucker gene: TFAM was added
gene: TFAM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to PMID: 34647195
Penetrance for gene: TFAM were set to Complete
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 PRDM9 Zornitza Stark Phenotypes for gene: PRDM9 were changed from Premature ovarian insufficiency, no OMIM # to Inherited primary ovarian failure MONDO:0019852
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Zornitza Stark Marked gene: PRDM9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Chirag Patel Classified gene: PRDM9 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Chirag Patel Gene: prdm9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.281 PRDM9 Chirag Patel gene: PRDM9 was added
gene: PRDM9 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM9 were set to PMID: 34257419
Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency, no OMIM #
Review for gene: PRDM9 was set to GREEN
Added comment: The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals.

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_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark edited their review of gene: STAG3: Changed phenotypes: Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672 to Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.279 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903; 31125047; 31682730; 32634216
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.278 STAG3 Zornitza Stark Deleted their comment
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.278 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723 to Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.277 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.276 STAG3 Zornitza Stark Mode of inheritance for gene: STAG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 STAG3 Zornitza Stark reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31125047, 31682730, 32634216; Phenotypes: Spermatogenic failure 61, MIM# 619672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 SPIDR Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 SPIDR Zornitza Stark reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 XRCC4 Bryony Thompson Marked gene: XRCC4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 XRCC4 Bryony Thompson Gene: xrcc4 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 XRCC4 Bryony Thompson gene: XRCC4 was added
gene: XRCC4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25742519; 34794894
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction MIM#616541
Review for gene: XRCC4 was set to RED
Added comment: A single female case with a homozygous variant has been reported with hypogonadism as a feature of the condition.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Marked gene: WDR62 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Classified gene: WDR62 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.273 WDR62 Bryony Thompson Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.272 WDR62 Bryony Thompson gene: WDR62 was added
gene: WDR62 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: WDR62 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR62 were set to 34794894; 30102701
Phenotypes for gene: WDR62 were set to Primary ovarian insufficiency
Review for gene: WDR62 was set to AMBER
Added comment: Two unrelated cases with primary amenorrhea were heterozygous for a missense (p.Cys599Tyr) and a frameshift (p.Thr1068fs) variant that demonstrated a dominant-negative effect on STRA8 expression. Wdr62 -/- mice were completely infertile with reduced ovary size and absent ovarian follicles in females.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 UBR2 Bryony Thompson Marked gene: UBR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 UBR2 Bryony Thompson Gene: ubr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.271 UBR2 Bryony Thompson gene: UBR2 was added
gene: UBR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: UBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR2 were set to 33095795; 34794894
Phenotypes for gene: UBR2 were set to Primary ovarian failure
Review for gene: UBR2 was set to RED
Added comment: Single POI case with a heterozygous missense variant (p.Ser1615Thr).
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Marked gene: SPIDR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Classified gene: SPIDR as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.270 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.269 SPIDR Bryony Thompson gene: SPIDR was added
gene: SPIDR was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency
Review for gene: SPIDR was set to AMBER
Added comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Marked gene: BLM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Gene: blm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Classified gene: BLM as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.268 BLM Bryony Thompson Gene: blm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.267 BLM Bryony Thompson gene: BLM was added
gene: BLM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLM were set to 34794894; 29056561; 28846287
Phenotypes for gene: BLM were set to Bloom syndrome MIM#210900
Review for gene: BLM was set to GREEN
gene: BLM was marked as current diagnostic
Added comment: Hypogonadism and premature menopause are reported features of the condition
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Marked gene: WRN as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Gene: wrn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Classified gene: WRN as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.266 WRN Bryony Thompson Gene: wrn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.265 WRN Bryony Thompson gene: WRN was added
gene: WRN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 34794894; 20301687
Phenotypes for gene: WRN were set to Werner syndrome MIM#277700
Review for gene: WRN was set to GREEN
gene: WRN was marked as current diagnostic
Added comment: Hypogonadism is a prominent feature of the condition, reportedly present in ~80% of cases.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Marked gene: REC8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Classified gene: REC8 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.264 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.263 REC8 Bryony Thompson gene: REC8 was added
gene: REC8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Phenotypes for gene: REC8 were set to Primary ovarian insufficiency
Review for gene: REC8 was set to AMBER
Added comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants
PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.
PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Marked gene: NBN as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Gene: nbn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Classified gene: NBN as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.262 NBN Bryony Thompson Gene: nbn has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.261 NBN Bryony Thompson gene: NBN was added
gene: NBN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to 34794894; 20444919
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome MIM#251260
Review for gene: NBN was set to GREEN
gene: NBN was marked as current diagnostic
Added comment: Primary ovarian insufficiency is a prominent feature of the condition for affected females.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Marked gene: MSH4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Classified gene: MSH4 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.260 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.259 MSH4 Bryony Thompson gene: MSH4 was added
gene: MSH4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284
Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia
Review for gene: MSH4 was set to GREEN
Added comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.
PMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)
PMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant
PMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)
PMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant
PMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Marked gene: MEIOB as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Gene: meiob has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Classified gene: MEIOB as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.258 MEIOB Bryony Thompson Gene: meiob has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.257 MEIOB Bryony Thompson gene: MEIOB was added
gene: MEIOB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOB were set to 34794894; 24068956; 31000419
Phenotypes for gene: MEIOB were set to Primary ovarian insufficiency
Review for gene: MEIOB was set to AMBER
Added comment: Single family with a homozygous splicing variant in 2 affected sisters. Female null mouse model is infertile.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Marked gene: HELQ as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Classified gene: HELQ as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.256 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.255 HELQ Bryony Thompson gene: HELQ was added
gene: HELQ was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELQ were set to 34794894; 24005329; 33095795
Phenotypes for gene: HELQ were set to Primary ovarian insufficiency
Review for gene: HELQ was set to AMBER
Added comment: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.254 FANCL Bryony Thompson Phenotypes for gene: FANCL were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.253 FANCL Bryony Thompson Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.252 FANCL Bryony Thompson Classified gene: FANCL as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.252 FANCL Bryony Thompson Gene: fancl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCL Bryony Thompson edited their review of gene: FANCL: Changed publications: 32048394, 32851770, 11823446, 33095795, 34794894; Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group L MIM#614083; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCL Bryony Thompson changed review comment from: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. However, there is no reported evidence of POI in female carriers of FANCL pathogenic variants for fanconi anemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: Literature; to: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. Also, homozygous frameshift insertion identified in a POI case without any known features of fanconi anaemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Marked gene: FANCC as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Gene: fancc has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Classified gene: FANCC as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 FANCC Bryony Thompson Gene: fancc has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.250 FANCC Bryony Thompson gene: FANCC was added
gene: FANCC was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 34794894; 8630504
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C MIM#227645
Review for gene: FANCC was set to AMBER
Added comment: Hypergonadotropic hypogonadism is listed as a genitourinary feature of the condition. A null mouse model has compromised gametogenesis.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.249 FANCA Bryony Thompson Phenotypes for gene: FANCA were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.248 FANCA Bryony Thompson Mode of inheritance for gene: FANCA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson changed review comment from: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Sources: Literature; to: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Hypergonadotropic hypogonadism is listed as an endocrine feature of the Fanconi anaemia phenotype in OMIM.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson edited their review of gene: FANCA: Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group A MIM#227650; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Marked gene: FANCA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Gene: fanca has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Classified gene: FANCA as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 FANCA Bryony Thompson Gene: fanca has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.246 FANCA Bryony Thompson gene: FANCA was added
gene: FANCA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: FANCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FANCA were set to 34794894; 33025164; 31535215; 10915769
Phenotypes for gene: FANCA were set to Primary ovarian insufficiency
Review for gene: FANCA was set to AMBER
Added comment: PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson edited their review of gene: DMC1: Changed publications: 34794894, 29331980, 9660954, 9660953, 18166824
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Marked gene: DMC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Gene: dmc1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Classified gene: DMC1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.245 DMC1 Bryony Thompson Gene: dmc1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.244 DMC1 Bryony Thompson gene: DMC1 was added
gene: DMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953
Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia
Review for gene: DMC1 was set to AMBER
Added comment: 1 case with POI and 1 family with diminished ovarian reserve rather than POI, and a supporting mouse model
PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.243 C14orf39 Bryony Thompson Classified gene: C14orf39 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.243 C14orf39 Bryony Thompson Gene: c14orf39 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 C14orf39 Bryony Thompson reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: 34718620, 33508233, 27796301; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Marked gene: CPEB1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Classified gene: CPEB1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.242 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.241 CPEB1 Bryony Thompson gene: CPEB1 was added
gene: CPEB1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
SV/CNV tags were added to gene: CPEB1.
Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780
Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency
Review for gene: CPEB1 was set to AMBER
Added comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Marked gene: BRCA2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Classified gene: BRCA2 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.240 BRCA2 Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.239 BRCA2 Bryony Thompson gene: BRCA2 was added
gene: BRCA2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 34794894; 30207912; 30865812
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 MIM#605724; premature ovarian failure
Review for gene: BRCA2 was set to GREEN
Added comment: 5 cases from 4 families with biallelic variants and POI
PMID: 30207912 - 2 sisters with biallelic variants and ovarian dysgenesis as a feature of the condition. Also, supporting Drosophila model.
PMID: 30865812 - premature ovarian insufficiency present in 2 unrelated cases with biallelic variants
PMID: 32482800 - a homozygous hypomorphic BRCA2 variant in a patient with POI without cancer or FA
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson Marked gene: BNC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson edited their review of gene: BNC1: Changed publications: 34794894, 30010909, 16624857, 32962729, 32894148, 30689869, 27301361
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.238 BNC1 Bryony Thompson Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.237 BNC1 Bryony Thompson Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729, 32894148
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.236 BNC1 Bryony Thompson Classified gene: BNC1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.236 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.235 BNC1 Bryony Thompson gene: BNC1 was added
gene: BNC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729, 32894148
Phenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723
Review for gene: BNC1 was set to GREEN
Added comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.
PMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).
SCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
PMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases
PMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Marked gene: ANKRD31 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Classified gene: ANKRD31 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.234 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.233 ANKRD31 Bryony Thompson gene: ANKRD31 was added
gene: ANKRD31 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD31 were set to 34794894; 34257419; 31003867
Phenotypes for gene: ANKRD31 were set to Premature ovarian failure
Review for gene: ANKRD31 was set to GREEN
Added comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Marked gene: INSL3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Gene: insl3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Classified gene: INSL3 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.232 INSL3 Bryony Thompson Gene: insl3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.231 INSL3 Bryony Thompson gene: INSL3 was added
gene: INSL3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: INSL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INSL3 were set to 34794894; 33095795; 10391220; 30204868
Phenotypes for gene: INSL3 were set to Primary ovarian insufficiency
Review for gene: INSL3 was set to AMBER
Added comment: A single case with POI with a homozygous missense variant (p.Val18Met, 3 homozygotes in gnomAD v2.1). Additionally, female null mouse have impaired fertility associated with deregulation of the oestrous cycle
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 BMPR2 Bryony Thompson Marked gene: BMPR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.230 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 34794894; 33095795; 28306340; 25989972
Phenotypes for gene: BMPR2 were set to Primary ovarian insufficiency
Review for gene: BMPR2 was set to RED
Added comment: PMID: 33095795 - 1 POI case with missense p.Val453Met
PMID: 28306340, 25989972 - 1 POI case with p.Ser987Phe (unaffected mother also has the variant), and in vitro functional assays demonstrating a significant increase in protein-like aggregation patterns in the endoplasmic reticulum. However, there are 24 hets for the variant in gnomAD v2.1
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Marked gene: BMPR1A as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Gene: bmpr1a has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Classified gene: BMPR1A as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.229 BMPR1A Bryony Thompson Gene: bmpr1a has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.228 BMPR1A Bryony Thompson gene: BMPR1A was added
gene: BMPR1A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1A were set to 28505269; 34794894; 31769494; 20363875
Phenotypes for gene: BMPR1A were set to Primary ovarian insufficiency
Review for gene: BMPR1A was set to AMBER
Added comment: Two POI cases reported with 2 different missense variants (p.Arg442His, p.Tyr425Cys). Arg442His has supporting in vitro functional evidence. Bmpr1a conditional knockout female mice are subfertile with reduced spontaneous ovulation. No POI reported in association with juvenile polyposis syndrome, which is caused by heterozygous variants in BMPR1A.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.227 GJA4 Bryony Thompson gene: GJA4 was added
gene: GJA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA4 were set to 34794894; 29207017
Phenotypes for gene: GJA4 were set to Primary ovarian insufficiency
Review for gene: GJA4 was set to RED
Added comment: A heterozygous missense (p.Gly316Ser) was identified in 2 POI cases and shown to have a dominant-negative effect on function. However, there are 768 hets and 10 homozygotes in gnomAD v2.1 which is too common for dominantly inherited disease.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.226 AMHR2 Bryony Thompson Classified gene: AMHR2 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.226 AMHR2 Bryony Thompson Gene: amhr2 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 AMHR2 Bryony Thompson reviewed gene: AMHR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34794894, 31291191, 24912417, 27430550; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Marked gene: NOTCH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Gene: notch2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Classified gene: NOTCH2 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.225 NOTCH2 Bryony Thompson Gene: notch2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.224 NOTCH2 Bryony Thompson gene: NOTCH2 was added
gene: NOTCH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to 34794894; 32772338; 32312275; 30304577; 28505269; 28283672
Phenotypes for gene: NOTCH2 were set to Primary ovarian insufficiency
Review for gene: NOTCH2 was set to GREEN
Added comment: At least 4 missense (in 5 women) with suggestive loss of function mechanisms and supporting mouse models
PMID: 32772338 - variable Hajdu-Cheney syndrome phenotype in family. Affected daughter with truncating variant not expected to cause NMD (pTrp2253Ter) had hypothalamic hypogonadism as a feature of the condition, but mother did not.
PMID: 32312275 - mother and daughter in a POI pedigree were both heterozygous for the missense p.Asp1853His (6 hets in gnomAD v2.1). In vitro functional assays of the variant demonstrated that it wasn't an activating mutation.
PMID: 30304577, 28505269 - 4 unrelated women with POI heterozygous for missense variants (p.Ser1804Leu, p.Gln1811His, p.Leu2408His, p.Pro2359Ala) and 1 woman suspected biallelic (p.Ala2316Val & p.Leu2408His). In vitro luciferase reporter assays in KGN cells demonstrated reduced function for S1804L (15% less), A2316V (27% less), and P2359A (14% less), the other missense were similar to WT. Additionally, p.Leu2408His has 583 hets in gnomAD v2.1. Suggested that POI is associated with loss of function, rather than the gain of function variants that cause Hajdu-Cheney syndrome and Alagille syndrome.
PMID: 28283672 - supporting conditional knockout mouse models
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 LHX8 Bryony Thompson Marked gene: LHX8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 LHX8 Bryony Thompson Gene: lhx8 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 LHX8 Bryony Thompson gene: LHX8 was added
gene: LHX8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904
Phenotypes for gene: LHX8 were set to Primary ovarian insufficiency
Review for gene: LHX8 was set to RED
Added comment: Only supporting mouse model. Same variant reported in 2 cases is too common
PMID: 34095689 - 1 POI case with missense p.Ala325Val, which has 533 hets and 22 homozygotes in gnomAD v2.1, too common for Mendelian disease
PMID: 29329412 - Lhx8 knockout mouse model demonstrates premature depletion of oocytes
PMID: 27603904 - 1 POI case also with p.Ala325Val
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.222 PRDM1 Bryony Thompson Marked gene: PRDM1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.222 PRDM1 Bryony Thompson Gene: prdm1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.222 PRDM1 Bryony Thompson gene: PRDM1 was added
gene: PRDM1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: PRDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM1 were set to 34794894; 33095795
Phenotypes for gene: PRDM1 were set to Primary ovarian insufficiency
Review for gene: PRDM1 was set to RED
Added comment: Single case heterozygous for a missense variant (c.1250C>G:p.P417R) with delayed puberty, congenital heart defect, café-au-lait spots, high arched palate, cubitus valgus, and hyperdontia.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.221 POU5F1 Bryony Thompson Publications for gene: POU5F1 were set to 21273125
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 POU5F1 Bryony Thompson reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 33095795; Phenotypes: Primary ovarian sufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Marked gene: DAZL as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Classified gene: DAZL as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.220 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.219 DAZL Bryony Thompson gene: DAZL was added
gene: DAZL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969
Phenotypes for gene: DAZL were set to Primary ovarian insufficiency
Review for gene: DAZL was set to AMBER
Added comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 BMP8B Bryony Thompson Marked gene: BMP8B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 BMP8B Bryony Thompson Gene: bmp8b has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.218 BMP8B Bryony Thompson gene: BMP8B was added
gene: BMP8B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMP8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP8B were set to 34794894; 33095795; 10894154; 22579288
Phenotypes for gene: BMP8B were set to Primary ovarian insufficiency
Review for gene: BMP8B was set to RED
Added comment: Two heterozygous POI cases, one with p.Met342Val which has 32 hets in gnomAD v2.1 and p.Arg260Cys which has 642 hets in gnomAD v2.1. Both more common than expected for Mendelian disease. Knockout mouse models have defective primordial germ cell formation.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 ATG9A Bryony Thompson Marked gene: ATG9A as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 ATG9A Bryony Thompson Gene: atg9a has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.217 ATG9A Bryony Thompson gene: ATG9A was added
gene: ATG9A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ATG9A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATG9A were set to 34794894; 30224786
Phenotypes for gene: ATG9A were set to Primary ovarian insufficiency
Review for gene: ATG9A was set to RED
Added comment: Single heterozygous case reported, with in vitro functional assay supporting a loss of function mechanism for the missense variant.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Marked gene: ATG7 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Gene: atg7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Classified gene: ATG7 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 ATG7 Bryony Thompson Gene: atg7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.215 ATG7 Bryony Thompson gene: ATG7 was added
gene: ATG7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34794894; 34161705; 30224786; 25590799
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31 MIM#619422; primary ovarian insufficiency
Review for gene: ATG7 was set to AMBER
Added comment: PMID: 30224786 - a heterozygous missense (p.Phe403Leu) in a single proband with POI and in vitro functional assays supporting loss of function for the variant.
PMID: 34161705 - one family with biallelic variants and SCAR31 had late-onset or no puberty, and another patient with SCAR31 from another family presented with hypogonadotropic hypogonadism and gynecomastia (2/5 families reported with endocrine features).
PMID: 25590799 - germ cell-specific mouse Atg7 knockout recapitulates the human POI phenotype
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Marked gene: GATA4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Gene: gata4 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Classified gene: GATA4 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 GATA4 Bryony Thompson Gene: gata4 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.213 GATA4 Bryony Thompson gene: GATA4 was added
gene: GATA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: GATA4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GATA4 were set to 34794894; 33095795; 29544631
Phenotypes for gene: GATA4 were set to Primary ovarian insufficiency; congenital heart defect
Review for gene: GATA4 was set to AMBER
Added comment: One woman with a homozygous missense (p.Pro407Arg) and POI, sensorineural deafness, congenital heart defect, and kidney insufficiency. Another woman with a heterozygous missense variant (p.Ala94Thr) with secondary amenorrhea (but no mention of congenital heart defects). Also, supporting mouse models for a role for GATA4 in ovarian development.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Marked gene: BMPR1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Classified gene: BMPR1B as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.211 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.210 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: BMPR1B were set to 34794894; 15805157; 28505269; 31769494
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia 3 MIM#609441; primary ovarian insufficiency
Review for gene: BMPR1B was set to AMBER
Added comment: A homozygous truncating variant in a syndromic case with hypergonadic hypogonadism as a feature of the condition. Two unrelated POI cases with a heterozygous missense variant (p.Arg254His and p.Phe272Leu). In vitro functional assay data demonstrating p.Phe272Leu alters BMP signalling.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Marked gene: TP63 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Gene: tp63 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Classified gene: TP63 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.209 TP63 Bryony Thompson Gene: tp63 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.208 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
SV/CNV tags were added to gene: TP63.
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to 34794894; 17609671; 30924587; 30689869; 32067224
Phenotypes for gene: TP63 were set to Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292
Review for gene: TP63 was set to GREEN
Added comment: At least 6 cases with nonsyndromic or syndromic POI with CNVs or SNV/small indel truncating variants.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Marked gene: PREPL as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Classified gene: PREPL as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.207 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.206 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 34794894; 28726805; 30924587; 32218803
Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome; premature ovarian failure
Review for gene: PREPL was set to GREEN
Added comment: At least 5 unrelated cases reported with hypergonadotrophic hypogonadism or absence of the ovaries as a feature of the condition.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Marked gene: POLR3H as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Classified gene: POLR3H as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.205 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.204 POLR3H Bryony Thompson gene: POLR3H was added
gene: POLR3H was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
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: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Marked gene: POLR2C as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Classified gene: POLR2C as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.203 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.202 POLR2C Bryony Thompson gene: POLR2C was added
gene: POLR2C was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. 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_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Marked gene: KHDRBS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Classified gene: KHDRBS1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.201 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.200 KHDRBS1 Bryony Thompson gene: KHDRBS1 was added
gene: KHDRBS1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. 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
Added comment: 4 cases 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_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Marked gene: DCAF17 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Gene: dcaf17 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Classified gene: DCAF17 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.199 DCAF17 Bryony Thompson Gene: dcaf17 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.198 DCAF17 Bryony Thompson gene: DCAF17 was added
gene: DCAF17 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 34590781; 34794894; 19026396
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome MIM#241080
Review for gene: DCAF17 was set to GREEN
gene: DCAF17 was marked as current diagnostic
Added comment: Primary hypogonadism (including primary ovarian failure) is a common feature of the condition.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.197 ANTXR1 Bryony Thompson Marked gene: ANTXR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.197 ANTXR1 Bryony Thompson Gene: antxr1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.197 ANTXR1 Bryony Thompson gene: ANTXR1 was added
gene: ANTXR1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 34794894; 27426988; 16272061; 2248288; 17262136
Phenotypes for gene: ANTXR1 were set to GAPO syndrome MIM#230740
Review for gene: ANTXR1 was set to RED
Added comment: Premature ovarian insufficiency has been reported in at least 5 cases with GAPO syndrome from 4 families, but only one individual had been genetically confirmed to have an ANTXR1 pathogenic variant.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.196 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 ANOS1 Zornitza Stark edited their review of gene: ANOS1: Changed publications: 1594017, 8504298, 8989261
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 PANX1 Zornitza Stark changed review comment from: Two unrelated families, some functional data. However, clinical presentation is with infertility rather than POI/POF.; to: Two unrelated families with balletic variants, some functional data. Four with mono-allelic variants. However, clinical presentation is with infertility rather than POI/POF.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 PANX1 Zornitza Stark edited their review of gene: PANX1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 GGPS1 Zornitza Stark Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; deafness; ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; deafness; ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 GGPS1 Zornitza Stark edited their review of gene: GGPS1: Changed phenotypes: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518, Muscular dystrophy, Deafness, Ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.193 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.192 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 LHCGR Zornitza Stark reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 HSF2BP Zornitza Stark Marked gene: HSF2BP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 HSF2BP Zornitza Stark Gene: hsf2bp has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 HSF2BP Zornitza Stark gene: HSF2BP was added
gene: HSF2BP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
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: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Marked gene: SYCP2L as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Classified gene: SYCP2L as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.190 SYCP2L Zornitza Stark Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.189 SYCP2L Zornitza Stark gene: SYCP2L was added
gene: SYCP2L was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
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_Premature Ovarian Failure v0.188 C14orf39 Zornitza Stark Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to Premature ovarian failure 18, MIM# 619203
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark reviewed gene: C14orf39: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Marked gene: C14orf39 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Classified gene: C14orf39 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.187 C14orf39 Zornitza Stark Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 C14orf39 Elena Savva gene: C14orf39 was added
gene: C14orf39 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf39 were set to PMID: 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 had ovarian failure
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.186 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC2 were set to 30489636; 30042186
Phenotypes for gene: XRCC2 were set to Premature ovarian failure 17, MIM# 619146; Spermatogenic failure, MIM# 619145
Review for gene: XRCC2 was set to RED
Added comment: One individual reported with POF and bi-allelic variants in her gene. Her brother had spermatogenic failure, and one additional family reported with spermatogenic failure.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Classified gene: RNF216 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.185 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.184 RNF216 Zornitza Stark gene: RNF216 was added
gene: RNF216 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 25841028; 23656588
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, MIM# 212840
Review for gene: RNF216 was set to GREEN
Added comment: Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism, which can present with amenorrhoea in females.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Marked gene: POR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Phenotypes for gene: POR were changed from to Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.182 POR Zornitza Stark Publications for gene: POR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.181 POR Zornitza Stark Mode of inheritance for gene: POR was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242900; Phenotypes: Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Marked gene: FIGLA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Gene: figla has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Phenotypes for gene: FIGLA were changed from Premature ovarian failure,612310 to Premature ovarian failure, MIM#612310
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.179 FIGLA Zornitza Stark Publications for gene: FIGLA were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.178 FIGLA Zornitza Stark Mode of inheritance for gene: FIGLA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 FIGLA Zornitza Stark reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Marked gene: ESR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Gene: esr1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.176 ESR1 Zornitza Stark Publications for gene: ESR1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.175 ESR1 Zornitza Stark Mode of inheritance for gene: ESR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 ESR1 Zornitza Stark reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Marked gene: CYP19A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Gene: cyp19a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Publications for gene: CYP19A1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP19A1 Zornitza Stark reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303; Phenotypes: Aromatase deficiency, MIM# 613546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 BTG4 Zornitza Stark Classified gene: BTG4 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 BTG4 Zornitza Stark Gene: btg4 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 BTG4 Zornitza Stark edited their review of gene: BTG4: Added comment: Normal ovarian function, presents with infertility.; Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.171 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.171 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834967; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510 to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.169 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.168 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 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_Premature Ovarian Failure v0.167 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Marked gene: AMHR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Gene: amhr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Phenotypes for gene: AMHR2 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.166 AMHR2 Zornitza Stark Publications for gene: AMHR2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.165 AMHR2 Zornitza Stark Mode of inheritance for gene: AMHR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.164 AMHR2 Zornitza Stark Classified gene: AMHR2 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.164 AMHR2 Zornitza Stark Gene: amhr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMHR2 Zornitza Stark reviewed gene: AMHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24912417, 24146295; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Marked gene: AMH as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Gene: amh has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Phenotypes for gene: AMH were changed from to Primary ovarian insuffiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.162 AMH Zornitza Stark Publications for gene: AMH were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.161 AMH Zornitza Stark Mode of inheritance for gene: AMH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.160 AMH Zornitza Stark Classified gene: AMH as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.160 AMH Zornitza Stark Gene: amh has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AMH Zornitza Stark reviewed gene: AMH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25750103; Phenotypes: Primary ovarian insuffiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Marked gene: AIRE as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.158 AIRE Zornitza Stark Mode of pathogenicity for gene: AIRE was changed from to Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.157 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark changed review comment from: Hypogonadism is a feature.; to: Hypogonadism is a feature. Multiple families with bi-allelic variants reported.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark edited their review of gene: AIRE: Changed publications: 16965330, 19758376, 19807739
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Marked gene: NOG as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Gene: nog has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Phenotypes for gene: NOG were changed from to Symphalangism, proximal, 1A MIM#185800
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.155 NOG Bryony Thompson Publications for gene: NOG were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.154 NOG Bryony Thompson Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 NOG Bryony Thompson reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: 15066478, 22088931, 17381491; Phenotypes: Symphalangism, proximal, 1A MIM#185800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Marked gene: PANX1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Gene: panx1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Phenotypes for gene: PANX1 were changed from to Oocyte maturation defect 7, MIM# 618550
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.152 PANX1 Zornitza Stark Publications for gene: PANX1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.151 PANX1 Zornitza Stark Mode of inheritance for gene: PANX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 PANX1 Zornitza Stark reviewed gene: PANX1: Rating: RED; Mode of pathogenicity: None; Publications: 30918116, 32838805; Phenotypes: Oocyte maturation defect 7, MIM# 618550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 FXPOI Bryony Thompson Classified STR: FXPOI as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 FXPOI Bryony Thompson Str: fxpoi has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.149 FXPOI Bryony Thompson STR: FXPOI was added
STR: FXPOI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
5'UTR tags were added to STR: FXPOI.
Mode of inheritance for STR: FXPOI was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for STR: FXPOI were set to 20301558
Phenotypes for STR: FXPOI were set to Premature ovarian failure 1 MIM#311360
Review for STR: FXPOI was set to GREEN
STR: FXPOI was marked as clinically relevant
STR: FXPOI was marked as current diagnostic
Added comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]
RNA-mediated toxicity may result in the POI phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXPOI: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
It is estimated that 21% of women who carry a premutation develop FXPOI. The association between repeat size of the premutation allele and FXPOI is nonlinear; women with 80-99 repeats are at greatest risk for FXPOI.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Marked gene: FMR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Classified gene: FMR1 as No list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Added comment: Comment on list classification: Premature ovarian failure caused by an STR in this gene, which has been added under STRs
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.147 NANOS3 Bryony Thompson Mode of inheritance for gene: NANOS3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.146 NANOS3 Bryony Thompson Publications for gene: NANOS3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.145 NANOS3 Bryony Thompson Phenotypes for gene: NANOS3 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Marked gene: PATL2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Gene: patl2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Phenotypes for gene: PATL2 were changed from to Oocyte maturation defect 4, MIM# 617743
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.143 PATL2 Zornitza Stark Publications for gene: PATL2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.142 PATL2 Zornitza Stark Mode of inheritance for gene: PATL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 PATL2 Zornitza Stark edited their review of gene: PATL2: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 PATL2 Zornitza Stark reviewed gene: PATL2: Rating: ; Mode of pathogenicity: None; Publications: 28965844, 28965849, 32048119, 30765866; Phenotypes: Oocyte maturation defect 4, MIM# 617743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Marked gene: PGRMC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Gene: pgrmc1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Phenotypes for gene: PGRMC1 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.139 PGRMC1 Zornitza Stark Publications for gene: PGRMC1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.138 PGRMC1 Zornitza Stark Mode of inheritance for gene: PGRMC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 PGRMC1 Zornitza Stark edited their review of gene: PGRMC1: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 PGRMC1 Zornitza Stark reviewed gene: PGRMC1: Rating: ; Mode of pathogenicity: None; Publications: 25246111, 18782852; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Marked gene: POF1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Phenotypes for gene: POF1B were changed from to Premature ovarian failure 2B, MIM# 300604
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.136 POF1B Zornitza Stark Publications for gene: POF1B were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.135 POF1B Zornitza Stark Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.134 POF1B Zornitza Stark Classified gene: POF1B as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.134 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POF1B Zornitza Stark reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Marked gene: POU5F1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Gene: pou5f1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Phenotypes for gene: POU5F1 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.132 POU5F1 Zornitza Stark Publications for gene: POU5F1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.131 POU5F1 Zornitza Stark Mode of inheritance for gene: POU5F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 POU5F1 Zornitza Stark reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 21273125; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Marked gene: SGO2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Gene: sgo2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Phenotypes for gene: SGO2 were changed from to Perrault syndrome
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.129 SGO2 Zornitza Stark Publications for gene: SGO2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.128 SGO2 Zornitza Stark Mode of inheritance for gene: SGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 SGO2 Zornitza Stark reviewed gene: SGO2: Rating: RED; Mode of pathogenicity: None; Publications: 27629923; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Marked gene: NANOS3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Classified gene: NANOS3 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 NANOS3 Bryony Thompson 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_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Marked gene: SOHLH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Gene: sohlh2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Phenotypes for gene: SOHLH2 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.125 SOHLH2 Zornitza Stark Publications for gene: SOHLH2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.124 SOHLH2 Zornitza Stark Mode of inheritance for gene: SOHLH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SOHLH2 Zornitza Stark reviewed gene: SOHLH2: Rating: RED; Mode of pathogenicity: None; Publications: 24524832, 19014927; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Marked gene: SYCE1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Phenotypes for gene: SYCE1 were changed from to Premature ovarian failure 12, MIM# 616947
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.122 SYCE1 Zornitza Stark Publications for gene: SYCE1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.121 SYCE1 Zornitza Stark Mode of inheritance for gene: SYCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.120 SYCE1 Zornitza Stark Classified gene: SYCE1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.120 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 SYCE1 Zornitza Stark reviewed gene: SYCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25062452, 32917591, 32741963, 32402064, 31925770, 31916078; Phenotypes: Premature ovarian failure 12, MIM# 616947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Marked gene: MSH5 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Phenotypes for gene: MSH5 were changed from to Premature ovarian failure 13 MIM#617442
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.118 MSH5 Bryony Thompson Publications for gene: MSH5 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.117 MSH5 Bryony Thompson Classified gene: MSH5 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.117 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 MSH5 Bryony Thompson 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_Premature Ovarian Failure v0.116 DACH2 Zornitza Stark Marked gene: DACH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 DACH2 Zornitza Stark Gene: dach2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Marked gene: TUBB8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Gene: tubb8 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Phenotypes for gene: TUBB8 were changed from to Oocyte maturation defect 2, MIM# 616780
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.115 TUBB8 Zornitza Stark Publications for gene: TUBB8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.114 TUBB8 Zornitza Stark Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 TUBB8 Zornitza Stark reviewed gene: TUBB8: Rating: RED; Mode of pathogenicity: None; Publications: 26789871, 27273344; Phenotypes: Oocyte maturation defect 2, MIM# 616780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Marked gene: MRPS22 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Gene: mrps22 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Classified gene: MRPS22 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Gene: mrps22 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 MRPS22 Bryony Thompson reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566152, 31042289; Phenotypes: Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 MRPS22 Bryony Thompson Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Marked gene: WEE2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Gene: wee2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Phenotypes for gene: WEE2 were changed from to Oocyte maturation defect 5, MIM# 617996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.111 WEE2 Zornitza Stark Publications for gene: WEE2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.110 WEE2 Zornitza Stark Mode of inheritance for gene: WEE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 WEE2 Zornitza Stark reviewed gene: WEE2: Rating: RED; Mode of pathogenicity: None; Publications: 29606300, 30628060; Phenotypes: Oocyte maturation defect 5, MIM# 617996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 MRPS22 Bryony Thompson reviewed gene: MRPS22: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 7 618117; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 EIF4ENIF1 Bryony Thompson Phenotypes for gene: EIF4ENIF1 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.108 EIF4ENIF1 Bryony Thompson Publications for gene: EIF4ENIF1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.107 EIF4ENIF1 Bryony Thompson Mode of inheritance for gene: EIF4ENIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.106 EIF4ENIF1 Bryony Thompson Classified gene: EIF4ENIF1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.106 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.105 EIF4ENIF1 Bryony Thompson reviewed gene: EIF4ENIF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31810472, 23902945, 33095795; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.105 DACH2 Bryony Thompson Phenotypes for gene: DACH2 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.104 DACH2 Bryony Thompson Publications for gene: DACH2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.103 DACH2 Bryony Thompson Mode of inheritance for gene: DACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 DACH2 Bryony Thompson reviewed gene: DACH2: Rating: RED; Mode of pathogenicity: None; Publications: 15459172; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 HNF1B Bryony Thompson Marked gene: HNF1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 HNF1B Bryony Thompson Gene: hnf1b has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Marked gene: GDF9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Gene: gdf9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Publications for gene: GDF9 were set to 29044499; 8849725
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.101 GDF9 Bryony Thompson Classified gene: GDF9 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.101 GDF9 Bryony Thompson Gene: gdf9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 GDF9 Bryony Thompson edited their review of gene: GDF9: Added comment: PMID: 33036707 - Additional compound het case with primary amenorrhea and was diagnosed with non-syndromic POI and supporting functional assays.; Changed rating: GREEN; Changed publications: 29044499, 8849725, 33036707
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Marked gene: FANCM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Phenotypes for gene: FANCM were changed from to Premature ovarian failure 15 MIM#618096
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.99 FANCM Bryony Thompson Publications for gene: FANCM were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.98 FANCM Bryony Thompson Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.97 FANCM Bryony Thompson Classified gene: FANCM as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.97 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 FANCM Bryony Thompson reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29231814, 28837162, 33036707, 25010009; Phenotypes: Premature ovarian failure 15 MIM#618096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Marked gene: ZP1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Gene: zp1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Phenotypes for gene: ZP1 were changed from to Oocyte maturation defect 1, MIM# 615774
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.95 ZP1 Zornitza Stark Publications for gene: ZP1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.94 ZP1 Zornitza Stark Mode of inheritance for gene: ZP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP1 Zornitza Stark reviewed gene: ZP1: Rating: RED; Mode of pathogenicity: None; Publications: 24670168, 30810869, 32573113, 33272616; Phenotypes: Oocyte maturation defect 1, MIM# 615774; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Marked gene: ZP2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Gene: zp2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Phenotypes for gene: ZP2 were changed from to Oocyte maturation defect 6, MIM# 618353; Female infertility
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.92 ZP2 Zornitza Stark Publications for gene: ZP2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.91 ZP2 Zornitza Stark Mode of inheritance for gene: ZP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP2 Zornitza Stark changed review comment from: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature; to: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida. Presents with primary infertility rather than POI/POF.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP2 Zornitza Stark edited their review of gene: ZP2: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Marked gene: ZP3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Gene: zp3 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Phenotypes for gene: ZP3 were changed from to Oocyte maturation defect 3, MIM# 617712
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.89 ZP3 Zornitza Stark Publications for gene: ZP3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.88 ZP3 Zornitza Stark Mode of inheritance for gene: ZP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ZP3 Zornitza Stark reviewed gene: ZP3: Rating: RED; Mode of pathogenicity: None; Publications: 28886344, 30810869; Phenotypes: Oocyte maturation defect 3, MIM# 617712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Marked gene: ERAL1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Phenotypes for gene: ERAL1 were changed from to Perrault syndrome 6, MIM# 617565
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.86 ERAL1 Bryony Thompson Publications for gene: ERAL1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.85 ERAL1 Bryony Thompson Mode of inheritance for gene: ERAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.84 ERAL1 Bryony Thompson Classified gene: ERAL1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.84 ERAL1 Bryony Thompson Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Marked gene: BTG4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Gene: btg4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Publications for gene: BTG4 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.82 BTG4 Bryony Thompson Phenotypes for gene: BTG4 were changed from to Oocyte maturation defect, MIM#619009
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.81 BTG4 Bryony Thompson Mode of inheritance for gene: BTG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.80 BTG4 Bryony Thompson Classified gene: BTG4 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.80 BTG4 Bryony Thompson Gene: btg4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.79 GDF9 Bryony Thompson Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14 MIM#618014
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.78 GDF9 Bryony Thompson Publications for gene: GDF9 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.77 GDF9 Bryony Thompson Mode of inheritance for gene: GDF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 FEZF1 Bryony Thompson Marked gene: FEZF1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 FEZF1 Bryony Thompson Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Marked gene: PROKR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Gene: prokr2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.75 PROKR2 Bryony Thompson Mode of inheritance for gene: PROKR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Marked gene: NUP107 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Gene: nup107 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Phenotypes for gene: NUP107 were changed from to Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.73 NUP107 Bryony Thompson Publications for gene: NUP107 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.72 NUP107 Bryony Thompson Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NUP107 Bryony Thompson reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 32684853, 26485283, 29363275; Phenotypes: Ovarian dysgenesis 6 MIM#618078, primary amenorrhea, hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Marked gene: NR5A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Gene: nr5a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.70 NR5A1 Bryony Thompson Publications for gene: NR5A1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.69 NOBOX Bryony Thompson Mode of inheritance for gene: NOBOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Marked gene: LARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Gene: lars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Publications for gene: LARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Marked gene: KISS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.66 KISS1 Bryony Thompson Publications for gene: KISS1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.65 KISS1 Bryony Thompson Mode of inheritance for gene: KISS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.64 KISS1 Bryony Thompson Classified gene: KISS1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.64 KISS1 Bryony Thompson Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Marked gene: HFM1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Publications for gene: HFM1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Marked gene: FOXL2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Gene: foxl2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Publications for gene: FOXL2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Marked gene: FGFR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Gene: fgfr1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Phenotypes for gene: FGFR1 were changed from to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.60 FGFR1 Bryony Thompson Publications for gene: FGFR1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.59 FGFR1 Bryony Thompson Mode of inheritance for gene: FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 FGF8 Bryony Thompson Marked gene: FGF8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 FGF8 Bryony Thompson Gene: fgf8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Marked gene: CLPP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Gene: clpp has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Publications for gene: CLPP were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Marked gene: AARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Publications for gene: AARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.56 AIRE Bryony Thompson Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.55 AIRE Bryony Thompson Mode of inheritance for gene: AIRE was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP3 Bryony Thompson gene: ZP3 was added
gene: ZP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP3 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP2 Bryony Thompson gene: ZP2 was added
gene: ZP2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP1 Bryony Thompson gene: ZP1 was added
gene: ZP1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 WEE2 Bryony Thompson gene: WEE2 was added
gene: WEE2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: WEE2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 TUBB8 Bryony Thompson gene: TUBB8 was added
gene: TUBB8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: TUBB8 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SYCE1 Bryony Thompson gene: SYCE1 was added
gene: SYCE1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SYCE1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 STAG3 Bryony Thompson Source Genetic Health QLD was added to STAG3.
Mode of inheritance for gene STAG3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SOHLH2 Bryony Thompson gene: SOHLH2 was added
gene: SOHLH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SOHLH2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SOHLH1 Bryony Thompson Source Genetic Health QLD was added to SOHLH1.
Mode of inheritance for gene SOHLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SGO2 Bryony Thompson gene: SGO2 was added
gene: SGO2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SGO2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 POU5F1 Bryony Thompson gene: POU5F1 was added
gene: POU5F1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: POU5F1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 POF1B Bryony Thompson gene: POF1B was added
gene: POF1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: POF1B was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PGRMC1 Bryony Thompson gene: PGRMC1 was added
gene: PGRMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PGRMC1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PATL2 Bryony Thompson gene: PATL2 was added
gene: PATL2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PATL2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PANX1 Bryony Thompson gene: PANX1 was added
gene: PANX1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PANX1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NUP107 Bryony Thompson Source Genetic Health QLD was added to NUP107.
Mode of inheritance for gene NUP107 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NR5A1 Bryony Thompson Source Genetic Health QLD was added to NR5A1.
Mode of inheritance for gene NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NOG Bryony Thompson gene: NOG was added
gene: NOG was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: NOG was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NOBOX Bryony Thompson Source Genetic Health QLD was added to NOBOX.
Mode of inheritance for gene NOBOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NANOS3 Bryony Thompson gene: NANOS3 was added
gene: NANOS3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: NANOS3 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 MSH5 Bryony Thompson gene: MSH5 was added
gene: MSH5 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: MSH5 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 MRPS22 Bryony Thompson gene: MRPS22 was added
gene: MRPS22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: MRPS22 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 FANCM Bryony Thompson gene: FANCM was added
gene: FANCM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: FANCM was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ERAL1 Bryony Thompson gene: ERAL1 was added
gene: ERAL1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ERAL1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 EIF4ENIF1 Bryony Thompson gene: EIF4ENIF1 was added
gene: EIF4ENIF1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: EIF4ENIF1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 DACH2 Bryony Thompson gene: DACH2 was added
gene: DACH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: DACH2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 BTG4 Bryony Thompson gene: BTG4 was added
gene: BTG4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: BTG4 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.51 Bryony Thompson Panel name changed from Amenorrhoea_Premature Ovarian Failure to Primary Ovarian Insufficiency_Premature Ovarian Failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.50 Bryony Thompson Panel name changed from Amenorrhoea to Amenorrhoea_Premature Ovarian Failure
Panel types changed to Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 32399598
Phenotypes for gene: PEX6 were set to Perrault syndrome
Review for gene: PEX6 was set to RED
Added comment: Well established gene-disease association for peroxisomal disorders, including milder end of the spectrum (Heimler syndrome). Single case report of Perrault syndrome as presenting phenotype.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 BUB1B Zornitza Stark Gene: bub1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 BUB1B Zornitza Stark Classified gene: BUB1B as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.48 BUB1B Zornitza Stark Gene: bub1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.47 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Amenorrhoea. 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: There is a well established association between bi-allelic variants and mosaic variegated aneuploidy syndrome, MIM#257300

PMID: 32716490 - Chen et al 2020 - report 2 cases of heterogyzous variants in BUB1B in patients with premature ovarian insufficiency. In the familial case a rare missense variant of BUB1B c.273A>T (p.Gln91His) was shared by all affected individuals. A novel stop-gain variant of BUB1B c.1509T>A (p.Cys503*) was found in one of 200 sporadic POI cases and was found to be paternal in origin. In a mouse model with a loss-of-function mutant of Bub1b, Bub1b+/− female mice presented late-onset subfertility. Complete loss of Bub1b caused embryonic lethality in mice..
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.46 CCDC141 Bryony Thompson Marked gene: CCDC141 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.46 CCDC141 Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.46 CCDC141 Bryony Thompson Classified gene: CCDC141 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.46 CCDC141 Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.45 CCDC141 Bryony Thompson gene: CCDC141 was added
gene: CCDC141 was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: CCDC141 was set to Unknown
Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
Phenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism
Review for gene: CCDC141 was set to AMBER
Added comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.44 POLR3A Bryony Thompson Marked gene: POLR3A as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.44 POLR3A Bryony Thompson Gene: polr3a has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.44 POLR3A Bryony Thompson Classified gene: POLR3A as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.44 POLR3A Bryony Thompson Gene: polr3a has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.43 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 25339210
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694
Review for gene: POLR3A was set to GREEN
Added comment: PMID: 25339210 - delayed puberty or primary amenorrhea was present in 27/33 patients with POLR3A (81%).
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.42 POLR3B Bryony Thompson Marked gene: POLR3B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.42 POLR3B Bryony Thompson Gene: polr3b has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.42 POLR3B Bryony Thompson Classified gene: POLR3B as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.42 POLR3B Bryony Thompson Gene: polr3b has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.41 POLR3B Bryony Thompson gene: POLR3B was added
gene: POLR3B was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to 25339210; 27512013; 26113998
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Review for gene: POLR3B was set to GREEN
Added comment: Primary amenorrhoea can be a prominent feature of the condition in affected females.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.40 GGPS1 Bryony Thompson Marked gene: GGPS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.40 GGPS1 Bryony Thompson Gene: ggps1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.40 GGPS1 Bryony Thompson Classified gene: GGPS1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.40 GGPS1 Bryony Thompson Gene: ggps1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.39 GGPS1 Bryony Thompson gene: GGPS1 was added
gene: GGPS1 was added to Amenorrhoea. Sources: Literature
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; deafness; ovarian insufficiency
Review for gene: GGPS1 was set to GREEN
Added comment: 6 unrelated families with biallelic variants, where all postpubertal females had primary ovarian insufficiency.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.38 IGSF10 Bryony Thompson Marked gene: IGSF10 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.38 IGSF10 Bryony Thompson Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.38 IGSF10 Bryony Thompson Classified gene: IGSF10 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.38 IGSF10 Bryony Thompson Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.37 IGSF10 Bryony Thompson edited their review of gene: IGSF10: Changed phenotypes: delayed puberty, hypogonadotropic hypogonadism, primary ovary insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.37 IGSF10 Bryony Thompson gene: IGSF10 was added
gene: IGSF10 was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: IGSF10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IGSF10 were set to 27137492; 31042289
Phenotypes for gene: IGSF10 were set to delayed puberty; hypogonadotropic hypogonadism
Review for gene: IGSF10 was set to AMBER
Added comment: PMID: 27137492 - 4 Finnish families segregating p.Glu161Lys, but Finnish MAF in ExAC is 2%. Another six additional families with a possible missense, but variants are seen in ExAC suggesting incomplete penetrance. Supporting in vitro functional assays and zebrafish model. PMID: 31042289 - 2 unrelated consanguineous families with homozygous variants and family with a heterozygous frameshift and apparent incomplete penetrance.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.36 HNF1B Bryony Thompson Classified gene: HNF1B as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.36 HNF1B Bryony Thompson Gene: hnf1b has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.35 HNF1B Bryony Thompson reviewed gene: HNF1B: Rating: RED; Mode of pathogenicity: None; Publications: 23431465; Phenotypes: Mayer-rokitansky-kuster-hauser syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.35 Zornitza Stark removed gene:TRIP13 from the panel
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.34 NOBOX Zornitza Stark Marked gene: NOBOX as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.34 NOBOX Zornitza Stark Gene: nobox has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.34 NOBOX Zornitza Stark Publications for gene: NOBOX were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.33 NOBOX Zornitza Stark Mode of inheritance for gene: NOBOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 NOBOX Ee Ming Wong edited their review of gene: NOBOX: Changed publications: PMIDs: 27836978, 21837770, 25514101, 17701902, 27798098, 29067606; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 NOBOX Ee Ming Wong changed review comment from: - Missense and PTC variants have been identified in > 3 unrelated women diagnosed with POI from different studies
- The vast majority of variants are heterozygous, with only one homozygous variant reported in 1 individual with primary amenorrhea and serum FSH level significantly exceeding the threshold value (PMID: 27836978)
- Loss of Function has been clearly demonstrated, while dominant negative effect has also been suggested although there is currently limited evidence (PMID: 17701902)
- Individuals carrying the same variant can have heterogeneous clinical presentations; to: - Missense and PTC variants have been identified in > 3 unrelated women diagnosed with POI from different studies
- The vast majority of variants are heterozygous, with limited reports of homozygous variants (PMID: 27836978; 29067606)
- Loss of Function has been clearly demonstrated, while dominant negative effect has also been suggested although there is currently limited evidence (PMID: 17701902)
- Individuals carrying the same variant can have heterogeneous clinical presentations
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 NOBOX Ee Ming Wong reviewed gene: NOBOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 27836978, 21837770, 25514101, 17701902, 27798098; Phenotypes: Premature ovarian failure 5, 611548, AD (more commonly referred to as Premature ovarian insufficiency (POI) in the literature); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 FANCL Bryony Thompson Marked gene: FANCL as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 FANCL Bryony Thompson Gene: fancl has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 FANCL Bryony Thompson gene: FANCL was added
gene: FANCL was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: FANCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FANCL were set to 32048394; 32851770; 11823446
Phenotypes for gene: FANCL were set to Primary ovarian insufficiency
Review for gene: FANCL was set to AMBER
Added comment: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. However, there is no reported evidence of POI in female carriers of FANCL pathogenic variants for fanconi anemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Marked gene: MCM8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Gene: mcm8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Publications for gene: MCM8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.30 MCM8 Zornitza Stark Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.29 HS6ST1 Bryony Thompson Marked gene: HS6ST1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.29 HS6ST1 Bryony Thompson Gene: hs6st1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.29 HS6ST1 Bryony Thompson Classified gene: HS6ST1 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.29 HS6ST1 Bryony Thompson Gene: hs6st1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.28 HARS2 Bryony Thompson Marked gene: HARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.28 HARS2 Bryony Thompson Gene: hars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.28 HARS2 Bryony Thompson Phenotypes for gene: HARS2 were changed from ?Perrault syndrome 2 614926 to Perrault syndrome 2 614926
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.27 HARS2 Bryony Thompson Publications for gene: HARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.26 GNRHR Bryony Thompson Marked gene: GNRHR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.26 GNRHR Bryony Thompson Gene: gnrhr has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.26 GNRHR Bryony Thompson Publications for gene: GNRHR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.25 GNRH1 Bryony Thompson Marked gene: GNRH1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.25 GNRH1 Bryony Thompson Gene: gnrh1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.25 GNRH1 Bryony Thompson Phenotypes for gene: GNRH1 were changed from ?Hypogonadotropic hypogonadism 12 with or without anosmia 614841 to Hypogonadotropic hypogonadism 12 with or without anosmia 614841
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.24 GNRH1 Bryony Thompson Publications for gene: GNRH1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.23 FLRT3 Bryony Thompson Marked gene: FLRT3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.23 FLRT3 Bryony Thompson Gene: flrt3 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.23 FLRT3 Bryony Thompson Publications for gene: FLRT3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.22 FLRT3 Bryony Thompson Classified gene: FLRT3 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.22 FLRT3 Bryony Thompson Gene: flrt3 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.21 IL17RD Bryony Thompson Marked gene: IL17RD as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.21 IL17RD Bryony Thompson Gene: il17rd has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.21 IL17RD Bryony Thompson Classified gene: IL17RD as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.21 IL17RD Bryony Thompson Gene: il17rd has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.20 IL17RD Bryony Thompson Publications for gene: IL17RD were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.19 TRIP13 Ain Roesley Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.19 TRIP13 Ain Roesley gene: TRIP13 was added
gene: TRIP13 was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP13 were set to PMID: 32473092
Phenotypes for gene: TRIP13 were set to female infertility
Penetrance for gene: TRIP13 were set to unknown
Review for gene: TRIP13 was set to GREEN
Added comment: PMID: 32473092;
- 5 patients from 4 families (including 1 consanguineous) diagnosed with primary infertility with normal menstrual cycles.
- all missense variants
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.19 IL17RD Lauren Akesson reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: 32389901, 23643382; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia (MIM# 615267); Mode of inheritance: Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.19 HS6ST1 Lauren Akesson reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.19 HARS2 Lauren Akesson reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31827252, 31486067, 31449985, 27650058, 21464306; Phenotypes: Perrault syndrome 2 (MIM# 614926); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.18 GNRH1 Lauren Akesson reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32134721, 19567835, 19535795; Phenotypes: ?Hypogonadotropic hypogonadism 12 with or without anosmia (MIM# 614841); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.18 FGF8 Lauren Akesson reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20463092,18596921; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia (612702); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.18 FEZF1 Bryony Thompson Classified gene: FEZF1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.18 FEZF1 Bryony Thompson Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.17 FEZF1 Bryony Thompson reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25192046, 32400067, 19479999; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia MIM#616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.17 FGF17 Bryony Thompson Marked gene: FGF17 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.17 FGF17 Bryony Thompson Gene: fgf17 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.17 FGF17 Bryony Thompson Classified gene: FGF17 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.17 FGF17 Bryony Thompson Gene: fgf17 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.16 FGF17 Bryony Thompson reviewed gene: FGF17: Rating: AMBER; Mode of pathogenicity: None; Publications: 17442747, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.16 ESR2 Bryony Thompson Marked gene: ESR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.16 ESR2 Bryony Thompson Gene: esr2 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.16 ESR2 Bryony Thompson Classified gene: ESR2 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.16 ESR2 Bryony Thompson Gene: esr2 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.15 ESR2 Bryony Thompson reviewed gene: ESR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30113650, 9861029; Phenotypes: Ovarian dysgenesis 8 MIM#618187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.15 ERCC6 Bryony Thompson Marked gene: ERCC6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.15 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.15 ERCC6 Bryony Thompson Classified gene: ERCC6 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.15 ERCC6 Bryony Thompson Added comment: Comment on list classification: Strong segregation in one family and supporting functional assays. POI has not been mentioned in carriers for Cockayne syndrome. More evidence is required to determine whether dominant POI associated variants in this gene are specific to the exon expressed in the alternate transcript.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.15 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.14 ERCC6 Bryony Thompson Deleted their comment
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.14 ERCC6 Bryony Thompson Classified gene: ERCC6 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.14 ERCC6 Bryony Thompson Added comment: Comment on list classification: Strong segregation in one family and supporting functional assays.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.14 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.13 ERCC6 Bryony Thompson reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26218421; Phenotypes: Premature ovarian failure 11 MIM#616946; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.13 DUSP6 Bryony Thompson Marked gene: DUSP6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.13 DUSP6 Bryony Thompson Gene: dusp6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.13 DUSP6 Bryony Thompson Classified gene: DUSP6 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.13 DUSP6 Bryony Thompson Gene: dusp6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.12 DUSP6 Bryony Thompson reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.12 DIAPH2 Bryony Thompson Marked gene: DIAPH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.12 DIAPH2 Bryony Thompson Gene: diaph2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.12 DIAPH2 Bryony Thompson Tag SV/CNV tag was added to gene: DIAPH2.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.12 DIAPH2 Bryony Thompson Classified gene: DIAPH2 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.12 DIAPH2 Bryony Thompson Gene: diaph2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.11 DIAPH2 Bryony Thompson 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.11 AXL Bryony Thompson Phenotypes for gene: AXL were changed from to Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.10 AXL Bryony Thompson Publications for gene: AXL were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.9 AXL Bryony Thompson Marked gene: AXL as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.9 AXL Bryony Thompson Gene: axl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.9 AXL Bryony Thompson Classified gene: AXL as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.9 AXL Bryony Thompson Gene: axl has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 AXL Bryony Thompson reviewed gene: AXL: Rating: AMBER; Mode of pathogenicity: None; Publications: 18787040, 24476074; Phenotypes: Kallman syndrome, normosmic idiopathic hypogonadotropic hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 IL17RD Bryony Thompson gene: IL17RD was added
gene: IL17RD was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IL17RD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 HS6ST1 Bryony Thompson gene: HS6ST1 was added
gene: HS6ST1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HS6ST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HS6ST1 were set to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome 137920 AD
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 GNRHR Bryony Thompson gene: GNRHR was added
gene: GNRHR was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia 146110
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 GNRH1 Bryony Thompson gene: GNRH1 was added
gene: GNRH1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRH1 were set to ?Hypogonadotropic hypogonadism 12 with or without anosmia 614841
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 FLRT3 Bryony Thompson gene: FLRT3 was added
gene: FLRT3 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 FGF8 Bryony Thompson gene: FGF8 was added
gene: FGF8 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 FGF17 Bryony Thompson gene: FGF17 was added
gene: FGF17 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 FEZF1 Bryony Thompson gene: FEZF1 was added
gene: FEZF1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FEZF1 were set to Hypogonadotropic hypogonadism 22, with or without anosmia 616030
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 ESR2 Bryony Thompson gene: ESR2 was added
gene: ESR2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ESR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ESR2 were set to ?Ovarian dysgenesis 8 618187
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ERCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ERCC6 were set to Premature ovarian failure 11 616946
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 DUSP6 Bryony Thompson gene: DUSP6 was added
gene: DUSP6 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DUSP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 DIAPH2 Bryony Thompson gene: DIAPH2 was added
gene: DIAPH2 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DIAPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DIAPH2 were set to ?Premature ovarian failure 2A 300511
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 CHD7 Bryony Thompson gene: CHD7 was added
gene: CHD7 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia 612370; CHARGE syndrome 214800
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 AXL Bryony Thompson gene: AXL was added
gene: AXL was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AXL was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.8 ANOS1 Bryony Thompson gene: ANOS1 was added
gene: ANOS1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.6 STAG3 Bryony Thompson Marked gene: STAG3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.6 STAG3 Bryony Thompson Gene: stag3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.6 STAG3 Bryony Thompson Phenotypes for gene: STAG3 were changed from to Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.5 STAG3 Bryony Thompson Publications for gene: STAG3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 STAG3 Bryony Thompson reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24597867, 26059840, 31803224, 31363903; Phenotypes: Premature ovarian failure 8 MIM#615723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 SOHLH1 Bryony Thompson Marked gene: SOHLH1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 SOHLH1 Bryony Thompson Gene: sohlh1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.4 SOHLH1 Bryony Thompson Phenotypes for gene: SOHLH1 were changed from to Ovarian dysgenesis 5 MIM#617690
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.3 SOHLH1 Bryony Thompson Publications for gene: SOHLH1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 SOHLH1 Bryony Thompson reviewed gene: SOHLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25774885, 16690745, 31042289; Phenotypes: Ovarian dysgenesis 5 MIM#617690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 HFM1 Bryony Thompson reviewed gene: HFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23555294, 24597873, 31279343; Phenotypes: Premature ovarian failure 9 MIM#615724; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 GDF9 Bryony Thompson Classified gene: GDF9 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.2 GDF9 Bryony Thompson Gene: gdf9 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.1 GDF9 Bryony Thompson reviewed gene: GDF9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29044499, 8849725; Phenotypes: Premature ovarian failure 14 MIM#618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.1 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 STAG3 Bryony Thompson gene: STAG3 was added
gene: STAG3 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 SOHLH1 Bryony Thompson gene: SOHLH1 was added
gene: SOHLH1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SOHLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 HFM1 Bryony Thompson gene: HFM1 was added
gene: HFM1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFM1 were set to Premature ovarian failure 9,615724
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FSHB Bryony Thompson gene: FSHB was added
gene: FSHB was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia 229070
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure 615889
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 WT1 Bryony Thompson gene: WT1 was added
gene: WT1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WT1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 WDR11 Bryony Thompson gene: WDR11 was added
gene: WDR11 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR11 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 TACR3 Bryony Thompson gene: TACR3 was added
gene: TACR3 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TACR3 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 TAC3 Bryony Thompson gene: TAC3 was added
gene: TAC3 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TAC3 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 STAR Bryony Thompson gene: STAR was added
gene: STAR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: STAR was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 SEMA3A Bryony Thompson gene: SEMA3A was added
gene: SEMA3A was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEMA3A was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PSMC3IP Bryony Thompson gene: PSMC3IP was added
gene: PSMC3IP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PSMC3IP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMC3IP were set to Ovarian dysgenesis 3,614324
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PROKR2 Bryony Thompson gene: PROKR2 was added
gene: PROKR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROKR2 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 PROK2 Bryony Thompson gene: PROK2 was added
gene: PROK2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PROK2 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 POR Bryony Thompson gene: POR was added
gene: POR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POR was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal recessive 1 258450; Progressive external ophthalmoplegia, autosomal dominant 1 157640
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 NUP107 Bryony Thompson gene: NUP107 was added
gene: NUP107 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 NR5A1 Bryony Thompson gene: NR5A1 was added
gene: NR5A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR5A1 were set to Spermatogenic failure 8,613957; 46XY sex reversal 3,612965; Premature ovarian failure 7,612964
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 NOBOX Bryony Thompson gene: NOBOX was added
gene: NOBOX was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NOBOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOBOX were set to Premature ovarian failure 5,611548
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 MCM9 Bryony Thompson gene: MCM9 was added
gene: MCM9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM9 were set to Ovarian dysgenesis 4, 616185
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 MCM8 Bryony Thompson gene: MCM8 was added
gene: MCM8 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM8 was set to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LHCGR Bryony Thompson gene: LHCGR was added
gene: LHCGR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LHCGR was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LHB Bryony Thompson gene: LHB was added
gene: LHB was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LHB was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4 615300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 KISS1R Bryony Thompson gene: KISS1R was added
gene: KISS1R was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KISS1R was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 KISS1 Bryony Thompson gene: KISS1 was added
gene: KISS1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KISS1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 HSD17B4 Bryony Thompson gene: HSD17B4 was added
gene: HSD17B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to Perrault syndrome 1 233400
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 GNAS Bryony Thompson gene: GNAS was added
gene: GNAS was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNAS was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 GDF9 Bryony Thompson gene: GDF9 was added
gene: GDF9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GDF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FSHR Bryony Thompson gene: FSHR was added
gene: FSHR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FSHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FSHR were set to Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FOXL2 Bryony Thompson gene: FOXL2 was added
gene: FOXL2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXL2 were set to Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100; Premature ovarian failure 3,608996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FMR1 Bryony Thompson gene: FMR1 was added
gene: FMR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to Fragile X tremor ataxia syndrome, 300623; Fragile X syndrome, 300624; Premature ovarian failure 1, 311360
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FIGLA Bryony Thompson gene: FIGLA was added
gene: FIGLA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FIGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FIGLA were set to Premature ovarian failure,612310
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 FGFR1 Bryony Thompson gene: FGFR1 was added
gene: FGFR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FGFR1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 ESR1 Bryony Thompson gene: ESR1 was added
gene: ESR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ESR1 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Ovarioleukodystrophy 603896
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Ovarioleukodystrophy 603896
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Ovarioleukodystrophy 603896
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 CYP19A1 Bryony Thompson gene: CYP19A1 was added
gene: CYP19A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 CYP17A1 Bryony Thompson gene: CYP17A1 was added
gene: CYP17A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase, 17,20-lyase deficiency 202110
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3 614129
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Perrault syndrome 5, 616138
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 BMP15 Bryony Thompson gene: BMP15 was added
gene: BMP15 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BMP15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BMP15 were set to Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AMHR2 Bryony Thompson gene: AMHR2 was added
gene: AMHR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMHR2 was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AMH Bryony Thompson gene: AMH was added
gene: AMH was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMH was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 AIRE Bryony Thompson gene: AIRE was added
gene: AIRE was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIRE was set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 Bryony Thompson Added panel Amenorrhoea