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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=194",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=192",
"results": [
{
"created": "2025-07-30T15:52:40.714131+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH10 was added\ngene: DNAH10 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert list\nMode of inheritance for gene: DNAH10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH10 were set to 34237282\nPhenotypes for gene: DNAH10 were set to Spermatogenic failure 56, MIM# 619515\nReview for gene: DNAH10 was set to GREEN\nAdded comment: 4x families with 5 affecteds (chets and homs - 4 missense and 2 fs). Knockout mouse models were infertile and showed significant reduction in count and motility compared to heterozygous mice \nSources: Expert list",
"entity_name": "DNAH10",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:43:14.422049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.202",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CRBN were changed from Intellectual developmental disorder, autosomal recessive 2, MIM# 607417 to Intellectual developmental disorder, autosomal recessive 2, MIM# 607417",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:43:03.181862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.202",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: CRBN were changed from Mental retardation, autosomal recessive 2, MIM# 607417 to Intellectual developmental disorder, autosomal recessive 2, MIM# 607417",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:42:44.651566+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.201",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRBN",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:03:58.110913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF597 as ready",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:03:58.100773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf597 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:03:48.515378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF597 was added\ngene: ZNF597 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ZNF597 was set to Other\nPublications for gene: ZNF597 were set to 19968752; 28157578; 32576657\nPhenotypes for gene: ZNF597 were set to Recurrent pregnancy loss susceptibility, MONDO:0000144\nReview for gene: ZNF597 was set to RED\nAdded comment: ZNF597 is an imprinted gene- maternally expressed and paternally imprinted.\r\n- ZNF597 is highly expressed in the placenta and proposed to have an important role in placental development.\r\n- Knockout ZNF597 mice (homozygous -/-) is embryonic lethal due to failed embryonic organization before cardiogenesis at embryonic day 7.5. This period is equivalent to human Carnegie Stage 9 that occurs during week 3 between 19 to 21 days (5 weeks' gestation).\r\n- Literature associated with ZNF597 including maternal uniparental disomy of chromosome 16 (UPD(16)mat) or loss of paternal imprinting of ZNF59, resulting in an overexpression of ZNF597.\r\n- Unpublished in-house data/observation: A heterozygous deletion with a breakpoint in ZNF597 was observed in the female partner of a couple experiencing x4 early pregnancy loss at 5-8 weeks' gestation. \nSources: Expert list",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:54.501142+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF597 as ready",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:54.490832+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf597 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:50.412518+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF597 as Red List (low evidence)",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:50.404407+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf597 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF597",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:21.032571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFP36L2 as ready",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:21.022207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp36l2 has been classified as Green List (High Evidence).",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:03.802158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFP36L2 as Green List (high evidence)",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:01:03.792019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp36l2 has been classified as Green List (High Evidence).",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-07-29T16:00:49.443497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFP36L2 was added\ngene: ZFP36L2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ZFP36L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFP36L2 were set to 34611029; 38829516; 37211617\nPhenotypes for gene: ZFP36L2 were set to Oocyte/zygote/embryo maturation arrest 13, MIM# 620154\nReview for gene: ZFP36L2 was set to GREEN\nAdded comment: i) Literature in OMIM- PMID:34611029- x2 unrelated infertile Chinese women with defective oocyte maturation carrying different biallelic variants and functional analysis suggested that the variants cause maternal mRNA decay defects that result in female infertility.\r\n\r\nii) New papers reporting biallelic variants in conjunction with female infertility due to oocyte maturation defect+/- embryonic development arrest\r\n- PMID: 38829516: Novel compound heterozygous variant (p.His62Gln and p.Pro290Leu) in a patient with oocyte maturation defect. These variants lead to compromised binding capacity of the ZFP36L2-CONT6L complex and impaired mRNA degradation in HeLa cells and mouse oocytes.\r\n- PMID: 37211617: Novel homozygous variant c.853_861del (p.285_287del) in the affected individual with oocyte maturation defect from a consanguineous family. In vitro studies showed that the variant caused decreased protein levels of ZFP36L2 in oocytes due to mRNA instability and might lead to the loss of its function to degrade maternal mRNAs \nSources: Expert list",
"entity_name": "ZFP36L2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:59:10.926164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT6 as ready",
"entity_name": "WNT6",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:59:10.919401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT6",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:58:49.192019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT6 as Amber List (moderate evidence)",
"entity_name": "WNT6",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:58:49.182131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT6",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:58:36.121232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT6 was added\ngene: WNT6 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: WNT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNT6 were set to 36385415; 25750203\nPhenotypes for gene: WNT6 were set to recurrent pregnancy loss susceptibility, MONDO:0000144\nReview for gene: WNT6 was set to AMBER\nAdded comment: i) PMID: 36385415- heterozygous missense variant (p.Arg70Gly) in a female with recurrent pregnancy loss (C21)\r\n\r\nii) PMID: 25750203- four novel heterozygous (checked Sanger traces) variants (i.e, one missense P.Leu148Arg, one synonymous c. 522C>T, one variant in intron 1 c. 297+40G>A, and one variant in the 3′UTR c. 1127G>A ) in 4 women with unexplained recurrent miscarriages (RM), but only the missense variant was shown to affect the functional region of WNT6 that might explain the unexplained RM\r\n\r\nIn effect, only 2 cases with limited other supporting data, hence Amber. \nSources: Expert list",
"entity_name": "WNT6",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:55:56.932744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP26 as ready",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:55:56.925680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:55:50.418409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP26 as Amber List (moderate evidence)",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:55:50.407243+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:55:36.822030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP26: Changed rating: AMBER",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:55:24.529433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP26 was added\ngene: USP26 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: USP26 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: USP26 were set to 34202084; 27089915\nPhenotypes for gene: USP26 were set to Spermatogenic failure, X-linked 6, MIM# 301101\nAdded comment: i) PMID: 34202084- hemizygous missense variants in 2 unrelated affected Chinese men with infertility due to asthenoteratozoospermia (R825G in proband H002, and N799S in proband H042) and functional analysis showed markedly reduced USP26 mRNA and protein levels in patient sperm.\r\n\r\nii) PMID: 27089915- a novel hemizygous missense variant R344W in two affected Chinese men with non-obstructive azoospermia, which has been shown functionally to have reduce binding affinity and deubiquitinating activity of USP26 to androgen receptors.\r\n\r\nRated Amber as missense variants with little other supporting data. \nSources: Expert list",
"entity_name": "USP26",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:53:14.945878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2B as ready",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:53:14.938859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2b has been classified as Green List (High Evidence).",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:52:59.541274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2B as Green List (high evidence)",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:52:59.530646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2b has been classified as Green List (High Evidence).",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:52:47.479650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2B was added\ngene: UBE2B was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: UBE2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: UBE2B were set to 23378580; 26223869; 12784252\nPhenotypes for gene: UBE2B were set to Male infertility, MONDO:0005372\nReview for gene: UBE2B was set to GREEN\nAdded comment: i) PMID: 23378580 (2013)- Identified nine splicing, four missense and two nonsense alterations in unrelated oligospermic patients, majority are heterozygous, only 3 were homozygous. Their findings suggested that two distinct molecular mechanisms, mRNA editing and splicing processing, were disrupted in oligozoospermia.\r\n\r\nii) PMID: 26223869 (2015): Reported four known and novel heterozygous variants in idiopathic azoospermia (IA) patients in the Chinese population, and one of the missense variant was demonstrated to inhibit the transcriptional regulation activity of SP1 transcription factor, suggesting that it confers a high risk for IA.\r\n\r\niii) PMID: 12784252 (2003)- Ube2b(-/-) mice were shown to present male infertility and their sperm head shape anomalies suggested that Ube2b may be involved in the replacement of nuclear proteins during spermatid chromatin condensation. \nSources: Expert list",
"entity_name": "UBE2B",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:47:49.183082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMP2 as ready",
"entity_name": "TIMP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:47:49.171271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:47:42.852069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIMP2 as Amber List (moderate evidence)",
"entity_name": "TIMP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:47:42.840551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIMP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:47:24.686859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMP2 was added\ngene: TIMP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TIMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIMP2 were set to 20847186; 34756330\nPhenotypes for gene: TIMP2 were set to Recurrent pregnancy loss susceptibility, MONDO:0000144\nReview for gene: TIMP2 was set to AMBER\nAdded comment: i) PMID: 20847186- In family 6, TIMP2 partial duplication (involves Ex1-2) in mother and 4 out of 5 miscarriages. They have not yet been associated with RPL in humans, however, overexpression of TIMP2 was detected in a mouse model of RPL (Dixon et al., 2006). The TIMP2 disruption in miscarriages in Family 6 may have affected the placental development, but the possibility remains that maternal disruption of TIMP2 may contribute to RPL by impairing the remodeling of the endometrium in early pregnancy. Functional study was performed by PMID: 25674159, which showed reduced RNA and protein expression in chorionic villi cultures from miscarriages with the CNV.\r\n\r\nii) PMID: 34756330- de novo damaging heterozygous missense TIMP2 variant, c.[553G>A]; p.[Gly185Arg] in an eight-week euploid embryonic loss. The MMP2/TIMP2 complex is involved in several gestational processes including implantation and placentation.\r\n\r\niii) PMID: 11912288- The disruption of the TIMP2 gene was considered to be relevant for recurrent miscarriage due to its critical role in modulating invasion of the trophoblast into maternal endometrium and in vascular remodeling and angiogenesis of maternal and placenta tissues in the first trimester. \nSources: Expert list",
"entity_name": "TIMP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:45:44.878915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBPL2 as ready",
"entity_name": "TBPL2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:45:44.872272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbpl2 has been classified as Green List (High Evidence).",
"entity_name": "TBPL2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:45:31.564000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBPL2 as Green List (high evidence)",
"entity_name": "TBPL2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:45:31.551788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbpl2 has been classified as Green List (High Evidence).",
"entity_name": "TBPL2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:45:18.483533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBPL2 was added\ngene: TBPL2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TBPL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBPL2 were set to 37804378; 33966269; 33893736; 33541821\nPhenotypes for gene: TBPL2 were set to Inherited oocyte maturation defect, MONDO:0014769, TBPL2-related\nReview for gene: TBPL2 was set to GREEN\nAdded comment: New papers reporting biallelic variants in infertile women:\r\ni) PMID: 37804378- Compound heterozygous novel p.Arg268Ter and recurrent p.Arg233Ter in a female with impaired ovarian folliculogenesis. Structure prediction by molecular modeling demonstrated that three-dimensional structure of TBPL2 was destabilized in mutant proteins.\r\n\r\nii) PMID: 33966269- Homozygous missense mutation p.C299R in two infertile sisters with oocyte maturation arrest and degeneration from a consanguineous family. Functional assays showed that the transcriptional level of ZP3 was not completely blocked but severely reduced by the regulation of the mutant TBPL2, while the transcriptional level of H2Bc was significantly reduced but to a less severe extent compared with that of ZP3, suggesting that the missense had a damage to the transcription initiation function of TBPL2 and its downstream targeted genes got involved in different degrees. The mutant protein also has less stability, which contributes to the lower activity of transcription initiation in the mutant form.\r\n\r\niii) PMID: 33893736- Homozygous splicing variant (c.788 + 3A>G) in two unrelated families characterized by oocyte maturation defects. Functional assays showed that the variant disrupted the integrity of TBPL2 mRNA and affected oocytes showed that vital genes for oocyte maturation and fertilization were widely and markedly downregulated, suggesting that a mutation in TBPL2, led to global gene alterations in oocytes; the same variant reported before in PMID: 33541821 in three affected females with diminished ovarian reserve from 3 independent families. \nSources: Expert list",
"entity_name": "TBPL2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:43:23.868944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TACC3 as ready",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:43:23.861756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tacc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:43:17.215969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TACC3 as Amber List (moderate evidence)",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:43:17.204895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tacc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:42:51.865101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TACC3 was added\ngene: TACC3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TACC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TACC3 were set to 36395215\nPhenotypes for gene: TACC3 were set to Female infertility due to oocyte meiotic arrest, MONDO:0044626\nReview for gene: TACC3 was set to AMBER\nAdded comment: PMID: 36395215- compound heterozygous variants (Patient 1- p.Ser177Thr/p.Pro395Arg, Patient 2- p.Lys225_Cys236del/p.Gly631Val) in two unrelated females presented with oocyte maturation arrest and undetectable spindles on both polarization and fluorescence microscopy. Their oocytes lacked huoMTOCs and had poorly organized microtubules, similar to the phenotype of TACC3 depletion in vitro, which suggests a loss-of-function mechanism causing oocyte maturation arrest and infertility. \nSources: Expert list",
"entity_name": "TACC3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:41:26.043271+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYCP3 as Amber List (moderate evidence)",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:41:26.032425+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sycp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:41:17.840420+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SYCP3",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:37:35.239614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RXFP2 were changed from Cryptorchidism to Infertility; cryptorchidism; non-obstructive azoospermia",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:37:18.024529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RXFP2 were set to 31167797; 20963592",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:35:58.870301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RXFP2 as Green List (high evidence)",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:35:58.860608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rxfp2 has been classified as Green List (High Evidence).",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:35:45.349737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RXFP2: Added comment: New literature PMID: 39222519- a compound heterozygous variant (intragenic deletion of exon 1-5 and missense variant p.Glu77Lys) in a family with two male members affected by impaired fertility due to spermatogenic maturation arrest and a history of bilateral cryptorchidism. The Glu77Lys mutant showed no cAMP activity and hence failed to signal in response to INSL3, confirming a loss-of-function mechanism.; Changed rating: GREEN; Changed publications: 31167797, 20963592, 39222519",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:28:18.929914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PABPC1L as ready",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:28:18.916362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpc1l has been classified as Green List (High Evidence).",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:28:12.085914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PABPC1L as Green List (high evidence)",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:28:12.075360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpc1l has been classified as Green List (High Evidence).",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:27:59.267530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PABPC1L was added\ngene: PABPC1L was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PABPC1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PABPC1L were set to 37052235; 37723834; 38177974; 32172300\nPhenotypes for gene: PABPC1L were set to Oocyte/zygote/embryo maturation arrest 22, #MIM 621093\nReview for gene: PABPC1L was set to GREEN\nAdded comment: i) Literature in OMIM (PMID: 37052235;37723834;38177974)- >3 unrelated infertile women (due to a mixed phenotype including oocyte maturation abnormalities, fertilization failure, and embryonic development arrest) with different biallelic variants\r\n\r\nii) Additional paper (PMID: 32172300)- Homozygous likely deleterious variant in PABPC1L p.(Met26Lys) in a woman whose infertility phenotype resembles that of Pabpc1l−/− mouse. During her IVF cycles, 18 oocytes were retrieved and subjected to IVF and ICSI. Nine oocytes were assigned to ICSI, but eight were at germinal vesicle stage and only one showed polar body and failed to fertilize following ICSI. Similarly, nine oocytes were assigned to IVF, and only two showed polar body on the next day without any sign of fertilization. The remaining oocytes were at germinal vesicle stage. \nSources: Expert list",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:25:34.522124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP14 as ready",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:25:34.511926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:25:24.169103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP14 as Amber List (moderate evidence)",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:25:24.159246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:25:08.978732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP14 was added\ngene: NLRP14 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: NLRP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLRP14 were set to 38060382\nPhenotypes for gene: NLRP14 were set to Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest\nReview for gene: NLRP14 was set to AMBER\nAdded comment: PMID: 38060382- Compound heterozygous variants (p.Cys428Profs∗28/p.Leu887delinsArgTyr) reported in an infertile woman with oocyte maturation defects and early embryo arrest (EEA).\r\n- Functional analysis showed comparable protein levels compared with the wild-type control, although a truncated band of the expected size (47 kDa) was observed for the p.Cys428Profs∗28 variant.\r\n-The truncated variant, p.Cys428Profs∗28, is lacking the LRR domain and, hence, completely loses the ability to bind with UHRF1. The p.Leu887delinsArgTyr variant results in significant alteration in binding modes with decreased binding area and binding free energy, which introduced regional instability in the NLRP14-UHRF1 interaction. The interaction of both variants and UHRF1 was disrupted and might lead to increased UHRF1 protein degradation in oocytes. \nSources: Expert list",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:08:40.279687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEI1 as ready",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:08:40.268868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mei1 has been classified as Green List (High Evidence).",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:08:31.080310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEI1 as Green List (high evidence)",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:08:31.069467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mei1 has been classified as Green List (High Evidence).",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:07:50.850829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEI1 was added\ngene: MEI1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MEI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEI1 were set to 30388401; 38416203; 34037756; 36759719; 32741963; 36017582\nPhenotypes for gene: MEI1 were set to Recurrent hydatidiform mole 3, MIM# 618431; Non-obstructive azoospermia\nReview for gene: MEI1 was set to GREEN\nAdded comment: Literature in OMIM- PubMed: 30388401- biallelic variants in two women with history of RPL and HM (probands 1333 and 880) and affected family members (females with similar phenotypes and also male with NOA)\r\n\r\nNew papers (biallelic variants for OZEMA):\r\ni) PMID: 38416203- novel compound heterozygous frameshift variants (c.3002delC and c.2264_2268 + 11delGTGAGGTATGGACCAC) in a case of a female infertile patient suffering from embryonic arrest and recurrent implantation failure. Her arrested embryos from MEI1-affected oocytes exhibited abnormalities in copy number variation and DNA methylation following CMA, which contrasts with the proliferating embryos secondary to the loss of maternal chromosomes in hydatidiform moles.\r\n\r\nii)PMID: 34037756- five novel mutations in MEI1 in nine patients with similar infertile phenotypes of recurrent hydatidiform moles, embryonic arrest, recurrent implantation failure, and recurrent pregnancy loss from seven independent families. In vitro studies also demonstrated that protein-truncating and missense mutations reduced the protein level of MEI1, while the splicing mutations caused abnormal alternative splicing of MEI1.\r\n\r\nNew papers (biallelic variants for NOA):\r\ni) PMID: 36759719- Biallelic deleterious variants in four Chinese patients with NOA. Testicular pathologic analysis and immunohistochemical staining revealed that spermatogenesis is arrested at spermatocyte stage, with defective programmed DNA double-strand breaks (DSBs) homoeostasis and meiotic chromosome synapsis in patients carrying the variants. In addition, our results showed that one missense variant (c.G186C) reduced the expression of MEI1 and one frameshift variant (c.251delT) led to truncated proteins of MEI1 in in vitro.\r\n- others: PMID: 32741963;36017582\r\n\r\nNote: Moderate evidence for OZEMA and HM in FeRGI database \nSources: Expert list",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:05:41.631112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAJIN as ready",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:05:41.618669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: majin has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:05:34.615219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAJIN as Amber List (moderate evidence)",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:05:34.604154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: majin has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:05:20.998178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAJIN was added\ngene: MAJIN was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MAJIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAJIN were set to 39545410; 33211200\nPhenotypes for gene: MAJIN were set to Recurrent hydatidiform mole, non-obstructive azoospermia\nReview for gene: MAJIN was set to AMBER\nAdded comment: New papers (biallelic variant for HM/male infertility):\r\ni) PMID: 39545410- Novel homozygous splice donor site variant c.349+1G>T in patient 1824 (Italian) with 2 HMs followed by secondary infertility and substantially reduced bilateral ovarian volumes. MAJIN codes for a junction protein that forms a complex with TERB1 and TERB2, which together bind to telomeres and anchor them to the inner nuclear membrane components KASH5 and SUN1. This attachment of chromosomes to the nuclear envelope is essential for homologous chromosome movement and synapsis. In mice, both male and female null mutants Majin are infertile (PMID: 26548954). In humans, biallelic mutations in MAJIN have been reported in infertile males.\r\n\r\nii) PMID: 33211200- A homozygous p.Arg53His in NOA-affected male (Individual 4- M1646) with high CADD scores and low gnomad freq. Mice disrupted for either Majin or Terb2 display impaired synapsis, zygotene arrest, a lack of postmeiotic cells and infertility (Shibuya et al. 2015; Zhang et al. 2017). \nSources: Expert list",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:03:19.674216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHX8 as ready",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:03:19.664415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx8 has been classified as Green List (High Evidence).",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:02:05.748068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LHX8 as Green List (high evidence)",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:02:05.731992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx8 has been classified as Green List (High Evidence).",
"entity_name": "LHX8",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:01:01.533193+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KPNA7 as Amber List (moderate evidence)",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2025-07-29T15:01:01.517836+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kpna7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:59:49.026335+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KPNA7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Oocyte/zygote/embryo maturation arrest 17, #MIM 620319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:56:24.842596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1683 as ready",
"entity_name": "KIAA1683",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:56:24.831798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1683 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1683",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:56:18.111052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA1683 as Green List (high evidence)",
"entity_name": "KIAA1683",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:56:18.100136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1683 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1683",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:56:04.918217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA1683 was added\ngene: KIAA1683 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KIAA1683 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1683 were set to 36321563; 39872118; 37140151; 37184908; 40437858\nPhenotypes for gene: KIAA1683 were set to Spermatogenic failure 78, #MIM 620170\nReview for gene: KIAA1683 was set to GREEN\nAdded comment: Literature in OMIM entry- PubMed: 36321563, 39872118, 37140151, 37184908 (>3 unrelated Chinese men with infertility due to spermatogenic failure with hom/com het variants).\r\n\r\nNew paper: i) PMID: 40437858 (2025)- novel hom p.Trp796Ter in infertile man with fertilization failure and history of two miscarriages with his partner. According to the prediction of protein conformations, it was found that the protein conformations were truncated in the mutated IQCN gene, which probably affected the function of the patient's sperm. \nSources: Expert list",
"entity_name": "KIAA1683",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:53:48.898043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNU1 as ready",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:53:48.886908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnu1 has been classified as Green List (High Evidence).",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:53:36.459087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNU1 as Green List (high evidence)",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:53:36.452403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnu1 has been classified as Green List (High Evidence).",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:53:24.091122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNU1 was added\ngene: KCNU1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KCNU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNU1 were set to 34980136; 35551387; 20138882; 21427226; 25271166; 35551387\nPhenotypes for gene: KCNU1 were set to Spermatogenic failure 79, #MIM 620196\nReview for gene: KCNU1 was set to GREEN\nAdded comment: Literature in OMIM entry- PubMed: 34980136, 35551387- 3 unrelated male with spermatogenic failure with different homozygous variants, supported by functional evidence; PubMed: 20138882, 21427226, 25271166- Slo3 -/- KO mice were infertile, 35551387- mice with homozygous H720R variant, corresponding to the human H715R variant recapitulated human phenotype. \nSources: Expert list",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:50:37.563775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGN as Green List (high evidence)",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:50:37.553007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggn has been classified as Green List (High Evidence).",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:50:18.156304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GGN: Changed rating: GREEN",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:50:10.349185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GGN: Added comment: PMID: 23451117 (2013)- Ggn null mouse line demonstrated that s complete loss of GGN resulted in embryonic lethality at the very earliest period of pre-implantation development, with no viable blastocysts observed. This finding was consistent with the observation that Ggn mRNA was also expressed in lower levels in the oocyte and pre-implantation embryos.; Changed publications: 31985809, 33108537, 23451117; Changed phenotypes: Spermatogenic failure 69, MIM# 619826",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:48:35.126657+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGN",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:47:30.411049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXD1 as ready",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:47:30.404868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxd1 has been classified as Green List (High Evidence).",
"entity_name": "FOXD1",
"entity_type": "gene"
},
{
"created": "2025-07-29T14:47:24.700166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXD1 as Green List (high evidence)",
"entity_name": "FOXD1",
"entity_type": "gene"
}
]
}