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Infertility and Recurrent Pregnancy Loss v0.141 | STIL | Zornitza Stark Marked gene: STIL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.141 | STIL | Zornitza Stark Gene: stil has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.141 | STIL | Zornitza Stark Phenotypes for gene: STIL were changed from Recurrent pregnancy loss susceptibility, MONDO:0000144; Primary microcephaly 7, autosomal recessive, MIM# 612703 to Primary microcephaly 7, autosomal recessive, MIM# 612703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.140 | STIL | Zornitza Stark Classified gene: STIL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.140 | STIL | Zornitza Stark Gene: stil has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.139 | STIL | Zornitza Stark reviewed gene: STIL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.77 | FOXL2 |
Jasmine Chew gene: FOXL2 was added gene: FOXL2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: FOXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FOXL2 were set to 12149404; 19429596; 38558253; 36793102; 39545410 Phenotypes for gene: FOXL2 were set to Premature ovarian failure 3, #MIM 608996 Added comment: Literature in OMIM- PubMed: 12149404; 19429596- multiple patients with isolated POF carrying monoallelic variants New papers (monoallelic variants for POI): i) PMID: 38558253- One in-frame deletion and 13 missense variants, including two recurrent ones (p.(Pro212Ala) and p.(Arg349Gly) in 14 patients with POI/DOR. Two variants, (p.(Gly187Asp) and p.(Arg349Gly) have been previously identified in patients with non-syndromic POI (PMID: 19429596 and PMID: 36793102). ii) PMID: 36793102- Sixteen POI patients carrying four different heterozygous variants, including the recurrent p.(Arg349Gly). Functional assay on the recurrent variant showed that the mutant FOXL2 did not present with the transcriptional repressive effect on CYP17A1 expression as shown by wild-type protein. New paper (biallelic variants for HM): i) PMID: 39545410- A novel homozygous missense p.(Phe167Ser) in patient 1690 (South Asian) with 5 CHMs, 3 miscarriages, 1 stillbirth, and 1 live birth. FOXL2 is essential for granulosa cell differentiation and proliferation, as well as ovarian maintenance and function.Therefore, its impairment may affect indirectly the meiotic maturation of oocytes, and may consequently lead to molar pregnancies. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | CHRNA1 |
Jasmine Chew changed review comment from: Spontaneous abortion reported before. New papers: i) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF. ii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1 stillbirth and IV-3 TOP) carried homozygous R234L. Sources: Literature; to: Spontaneous abortion reported before. Other papers: i) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF. ii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1 stillbirth and IV-3 TOP) carried homozygous R234L. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | CHRNA1 |
Jasmine Chew gene: CHRNA1 was added gene: CHRNA1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 23037934; 18252226 Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM# 253290 Added comment: Spontaneous abortion reported before. New papers: i) PMID: 23037934- A novel homozygous p.R254C variant in a family with recurrent fetal loss due to NIHF. ii) PMID: 18252226- Family CHRNA1-F1 had a family history of spontaneous abortions (IV-2 within the family) and two of the affected fetus (IV-1 stillbirth and IV-3 TOP) carried homozygous R234L. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | TTN |
Jasmine Chew changed review comment from: i) PMID: 36977548- Reported 10 cases from six unrelated families showing different TTN combinations and four of those cases (F3-iii.1, F6-II.1, F6.ii.3, F6.ii.4) died in utero between 2nd-3rd trimester. - Quoted that "Probably, we are still missing the most severe end spectrum of titinopathies, as we are used to studying fetuses from late miscarriages or dead infants, while only few investigations are usually performed on early miscarriages. Moreover, prenatal tests often do not include TTN sequencing." ii)PMID: 38148006- com het p.Arg33743Ter and p.Gln34752Ter in a fetus with with hydrops fetalis and arthrogryposis multiplex congenita, which died in utero in 3rd trimester. iii) PMID: 29575618- homozygous c.36122delC (p. P12041Lfs*20) variant in 8 members of a consanguineous family affected with a lethal congenital contracture syndrome and among those 8, 3 were IUFD. Sources: Literature; to: i) PMID: 36977548- Reported 10 cases from six unrelated families showing different TTN combinations and four of those cases (F3-iii.1, F6-II.1, F6.ii.3, F6.ii.4) died in utero between 2nd-3rd trimester. - Quoted that "Probably, we are still missing the most severe end spectrum of titinopathies, as we are used to studying fetuses from late miscarriages or dead infants, while only few investigations are usually performed on early miscarriages. Moreover, prenatal tests often do not include TTN sequencing." ii)PMID: 38148006- com het p.Arg33743Ter and p.Gln34752Ter in a fetus with with hydrops fetalis and arthrogryposis multiplex congenita, which died in utero in 3rd trimester. iii) PMID: 29575618- homozygous c.36122delC (p. P12041Lfs*20) variant in 8 members of a consanguineous family affected with a lethal congenital contracture syndrome and among those 8, three members were IUFD. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | TTN |
Jasmine Chew gene: TTN was added gene: TTN was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 36977548; 38148006; 29575618 Phenotypes for gene: TTN were set to Lethal congenital contracture syndrome, MONDO:0017436 Review for gene: TTN was set to GREEN Added comment: i) PMID: 36977548- Reported 10 cases from six unrelated families showing different TTN combinations and four of those cases (F3-iii.1, F6-II.1, F6.ii.3, F6.ii.4) died in utero between 2nd-3rd trimester. - Quoted that "Probably, we are still missing the most severe end spectrum of titinopathies, as we are used to studying fetuses from late miscarriages or dead infants, while only few investigations are usually performed on early miscarriages. Moreover, prenatal tests often do not include TTN sequencing." ii)PMID: 38148006- com het p.Arg33743Ter and p.Gln34752Ter in a fetus with with hydrops fetalis and arthrogryposis multiplex congenita, which died in utero in 3rd trimester. iii) PMID: 29575618- homozygous c.36122delC (p. P12041Lfs*20) variant in 8 members of a consanguineous family affected with a lethal congenital contracture syndrome and among those 8, 3 were IUFD. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | STIL |
Jasmine Chew changed review comment from: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans. ii) PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development. Sources: Literature; to: i) PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Functional study showed impairment of the normal regulation of centriole lengthening. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans. ii) PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | STIL |
Jasmine Chew changed review comment from: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans. ii) PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development Sources: Literature; to: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans. ii) PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development. Sources: Literature |
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Infertility and Recurrent Pregnancy Loss v0.63 | STIL |
Jasmine Chew gene: STIL was added gene: STIL was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIL were set to 29230157; 33772059 Phenotypes for gene: STIL were set to Recurrent pregnancy loss susceptibility, MONDO:0000144; Primary microcephaly 7, autosomal recessive, MIM# 612703 Review for gene: STIL was set to AMBER Added comment: PMID: 29230157- In a family with multiple miscarriages and 2 terminations of pregnancy due to marked fetal microcephaly, delayed cortical gyrification, and dysgenesis of the corpus callosum, compound heterozygous missense variants (p.H411D and p.M124V) identified in two affected male fetuses with partial agenesis of the corpus callosum. Concluded that the compound heterozygous STIL mutations found by WES in the affected fetuses cause the severe neurodevelopmental defects observed by fetal ultrasound and MRI, possibly also causing the recurrent miscarriages for the couple. The 5 miscarriages occurring in the family may suggest a causal relationship between the STIL mutations and embryonic lethality in humans. ii) PMID: 33772059- A homozygous missense variant p.338H>Y in case 93272, an Iranian family with 4 miscarriages. Fetal autopsy not available for this family. PMID: 10385121 disrupted STIL in mice and the homozygous mutant caused death with neural tube defects, holoprosencephaly and left–right development abnormalities during embryonic development Sources: Literature |