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Infertility and Recurrent Pregnancy Loss v1.79 Bryony Thompson Copied gene ACR from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.79 ACR Bryony Thompson gene: ACR was added
gene: ACR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACR were set to 37004249
Phenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Marked gene: PACRG as ready
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Gene: pacrg has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.71 PACRG Zornitza Stark Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056
Infertility and Recurrent Pregnancy Loss v1.70 Zornitza Stark Copied gene PACRG from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.70 PACRG Zornitza Stark gene: PACRG was added
gene: PACRG was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: PACRG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PACRG were set to 31116684; 31182890; 14737177; 27193298; 40298292; 34089056
Phenotypes for gene: PACRG were set to Spermatogenic failure, MONDO:0004983, PACRG-related
Infertility and Recurrent Pregnancy Loss v0.163 TACR3 Zornitza Stark Marked gene: TACR3 as ready
Infertility and Recurrent Pregnancy Loss v0.163 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.163 TACR3 Zornitza Stark Classified gene: TACR3 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.163 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.151 ACTL7A Jasmine Chew changed review comment from: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men

Other papers:
i)PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic. The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting, confirming the pathogenicity of the variants.

ii)PMID: 36574082 (2023)- two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.

iii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice.
Sources: Literature; to: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men

Other papers:
i) PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic.The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting.

ii)PMID: 36574082 (2023)- Two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.

iii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.151 ACTL7A Jasmine Chew gene: ACTL7A was added
gene: ACTL7A was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: ACTL7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL7A were set to 32923619; 34727571; 36593593; 37004249; 37991128; 36574082; 35921706
Phenotypes for gene: ACTL7A were set to Spermatogenic failure 86, #MIM 620499
Review for gene: ACTL7A was set to GREEN
Added comment: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men

Other papers:
i)PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic. The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting, confirming the pathogenicity of the variants.

ii)PMID: 36574082 (2023)- two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.

iii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.103 TACR3 Jasmine Chew gene: TACR3 was added
gene: TACR3 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACR3 were set to 22031817; 20332248; 20194706; 20395662; 19755480; 28915117; 19079066
Phenotypes for gene: TACR3 were set to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Review for gene: TACR3 was set to GREEN
Added comment: Biallelic variants reported for HH- PMID:22031817; 20332248; 20194706; 20395662; 19755480; 28915117; 19079066
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.82 LMNA Jasmine Chew gene: LMNA was added
gene: LMNA was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 18364375; 19283854; 39595984
Phenotypes for gene: LMNA were set to Female infertility, premature ovarian insufficiency
Review for gene: LMNA was set to GREEN
Added comment: Variants reported associated with female infertility and POI:
i) PMID: 18364375- seven families with 14 affected patients exhibiting heterozygous LMNA variants (five R482W, one R482Q, one R439C) and 7 percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 4 suffered from infertility, and 7 experienced at least one miscarriage, also quoted that "The prevalence of PCOS, infertility, miscarriages, gestational diabetes, and/or macrosomia and eclampsia or fetal death was much higher in LMNA-mutated women than in the general population (20–27)"

ii) PMID: 19283854- novel heterozygous missense pLeu59Arg in two unrelated patients with cardinal features of Malouf syndrome, that is, dilated cardiomyopathy and premature ovarian failure

iii) PMID: 39595984- Six different P/LP heterozygous variants in six unrelated patients with apparently isolated diminished ovarian reserve.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.17 AURKC Jasmine Chew gene: AURKC was added
gene: AURKC was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: AURKC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AURKC were set to 17435757; 19147683; 21733974
Phenotypes for gene: AURKC were set to Spermatogenic failure 5, MIM #243060
Review for gene: AURKC was set to GREEN
Added comment: i) PMID: 17435757- homozygous 1bp del (c.144delC; 603495.0001) in 10 infertile men (4 were unrelated French citizens of African descent) with a large-headed sperm phenotype, which resulted in premature termination of translation, yielding a truncated protein that lacks the kinase domain
ii) PMID: 19147683 - homozygous c.144delC found in 31 patients and compound heterozygous for c.144delC and a missense variant (C229Y) in 30 patients with large-headed spermatozoa

iii) PMID: 21733974- compound heterozygous for the c.144delC variant and a splice variant ((c.436-2A-G; predicted to cause skipping of exon 5) in 2 infertile brothers of Tunisian descent with macrozoospermia and a younger sister who had yet tried to achieve pregnancy
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.0 PLCZ1 Jasmine Chew changed review comment from: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.
ii) PMID:31463947- 3 homozygous variants (C196X, S350P, L246F) in 4 Chinese men from 3 consanguineous families with SPGF17 and total fertilization failure of oocytes after intracytoplasmic sperm injection.
iii) PMID: 36593593- compound heterozygosity for splice site and missense variants (c.1174+3A-C and N425S in case 2; c.136-1G-C and G453D in case 3) in 2 unrelated Chinese men with infertility due to acrosomal abnormalities and total fertilization failure.
iv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure
Sources: Literature; to: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.
ii) PMID:31463947- 3 homozygous variants (C196X, S350P, L246F) in 4 Chinese men from 3 consanguineous families with SPGF17 and total fertilization failure of oocytes after intracytoplasmic sperm injection.
iii) PMID: 36593593- compound heterozygosity for splice site and missense variants (c.1174+3A-C and N425S in case 2; c.136-1G-C and G453D in case 3) in 2 unrelated Chinese men with infertility due to acrosomal abnormalities and total fertilization failure.
iv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.0 PLCZ1 Jasmine Chew changed review comment from: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.
ii) PMID:31463947- 3 homozygous variants (C196X, S350P, L246F) in 4 Chinese men from 3 consanguineous families with SPGF17 and total fertilization failure of oocytes after intracytoplasmic sperm injection.
iii) PMID: 36593593 (2023)- compound heterozygosity for splice site and missense variants (c.1174+3A-C and N425S in case 2; c.136-1G-C and G453D in case 3) in 2 unrelated Chinese men with infertility due to acrosomal abnormalities and total fertilization failure.
iv) PMID: 37004249 (2023)- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure
Sources: Literature; to: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.
ii) PMID:31463947- 3 homozygous variants (C196X, S350P, L246F) in 4 Chinese men from 3 consanguineous families with SPGF17 and total fertilization failure of oocytes after intracytoplasmic sperm injection.
iii) PMID: 36593593- compound heterozygosity for splice site and missense variants (c.1174+3A-C and N425S in case 2; c.136-1G-C and G453D in case 3) in 2 unrelated Chinese men with infertility due to acrosomal abnormalities and total fertilization failure.
iv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.0 PLCZ1 Jasmine Chew gene: PLCZ1 was added
gene: PLCZ1 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: PLCZ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCZ1 were set to 26721930; 31463947; 36593593; 37004249
Phenotypes for gene: PLCZ1 were set to #MIM:617214
Review for gene: PLCZ1 was set to GREEN
Added comment: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.
ii) PMID:31463947- 3 homozygous variants (C196X, S350P, L246F) in 4 Chinese men from 3 consanguineous families with SPGF17 and total fertilization failure of oocytes after intracytoplasmic sperm injection.
iii) PMID: 36593593 (2023)- compound heterozygosity for splice site and missense variants (c.1174+3A-C and N425S in case 2; c.136-1G-C and G453D in case 3) in 2 unrelated Chinese men with infertility due to acrosomal abnormalities and total fertilization failure.
iv) PMID: 37004249 (2023)- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure
Sources: Literature