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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=276",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=274",
"results": [
{
"created": "2025-04-03T10:29:05.169037+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1822",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11381255, 18055821, 22570351, 29973277, 24625443, 31448181; Phenotypes: Retinal dystrophy, early-onset severe, Leber congenital amaurosis 14, Retinitis pigmentosa, juvenile, all under MIM #613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2025-04-03T08:01:58.543625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEX11 as ready",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T08:01:58.537885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex11 has been classified as Green List (High Evidence).",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T08:01:31.856236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEX11 as Green List (high evidence)",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T08:01:31.850263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex11 has been classified as Green List (High Evidence).",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T08:01:16.579026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEX11 was added\ngene: TEX11 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TEX11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TEX11 were set to 25970010; 29661171; 34621296; 37124723\nPhenotypes for gene: TEX11 were set to Spermatogenic failure, X-linked 2, MIM# 309120\nReview for gene: TEX11 was set to GREEN\nAdded comment: i) PMID:25970010- hemizygous variants in 7 out of of 289 azoospermic men, including a 90kb exonic deletion (Ex10-12) in 2 European men, 2 missense variants in 2 European/German men, and 3 splice variants in two white and one Arabic men.\r\nii) PMID: 29661171 (2018)- a novel hemizygous missense variant (W856C) in two brothers with azoospermia (absent in the mother- ?can it be gonadal mosaicism). Their testicular biopsy revealed meiotic arrest and no post-meiotic round spermatids and mature spermatozoa were observed.\r\niii) PMID: 34621296 (2021)- seven novel hemizygous variants in three familial (one missense, two splice) and four NOA-affected sporadic (three frameshift, one nonsense) cases iv) PMID: 37124723 (2023)- three novel hemizygous variants ( p.R105*, p.K143Q, and p.G859R) in three unrelated NOA males and their histological analysis of testicular biopsy specimens revealed thicker basement membrane of the seminiferous tubules and poorly developed spermatocytes. \nSources: Expert Review",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:59:41.855209+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEX11 as ready",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:59:41.846749+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex11 has been classified as Green List (High Evidence).",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:59:36.249362+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TEX11 were changed from #MIM:309120 to Spermatogenic failure, X-linked 2, MIM# 309120",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:58:56.684539+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEX11 as Green List (high evidence)",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:58:56.678675+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex11 has been classified as Green List (High Evidence).",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:58:47.572098+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TEX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, X-linked 2, MIM# 309120; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:57:55.369710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG6 as ready",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:57:55.363148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag6 has been classified as Green List (High Evidence).",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:57:48.005641+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPAG6 as Green List (high evidence)",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:57:47.997405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag6 has been classified as Green List (High Evidence).",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:57:33.590327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPAG6 was added\ngene: SPAG6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPAG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG6 were set to 35232447; 38073178; 32124190\nPhenotypes for gene: SPAG6 were set to Spermatogenic failure, MONDO:0004983, SPAG6-related\nReview for gene: SPAG6 was set to GREEN\nAdded comment: i) PMID: 35232447- two homozygous variants (F1 II-1: p. A103D; F2 II-1:p. K196Sfs*6) in two unrelated Han Chinese men with nonsyndromic asthenoteratozoospermia with severe multiple morphological abnormalities of the sperm flagella. Immunostaining and WB showed lower SPAG6 expression in spermatozoa of both affected males. The couple with the missense variant as able to conceive successfully after undergoing ICSI.\r\nii) PMID: 38073178- a homozygous missense p.R310W in three brothers (two brothers with both asthenozoospermia and oligozoospermia, third brother with azoospermia)\r\niii) PMID: 32124190- a novel compound heterozygous variant (c.143_145del: p.48_49del, c.585delA: p.Lys196Serfs*6) in an infertile PCD patient with severe with asthenoteratozoospermia, presented with morphological defects of sperm flagella and lower mRNA and protein expression in mutant sperm. \nSources: Literature",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:56:05.747007+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG6 as ready",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:56:05.738238+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag6 has been classified as Green List (High Evidence).",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:56:03.603726+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAG6 were changed from MONDO:0004983 to Spermatogenic failure, MONDO:0004983, SPAG6-related",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:55:54.025022+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPAG6 as Green List (high evidence)",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:55:54.016703+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag6 has been classified as Green List (High Evidence).",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:55:43.631796+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPAG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, MONDO:0004983, SPAG6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:54:27.314788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT12 as ready",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:54:27.308853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept12 has been classified as Green List (High Evidence).",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:54:19.491084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPT12 as Green List (high evidence)",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:54:19.485192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept12 has been classified as Green List (High Evidence).",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:54:02.979132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPT12 was added\ngene: SEPT12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEPT12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SEPT12 were set to 22479503; 22275165; 35547809\nPhenotypes for gene: SEPT12 were set to Spermatogenic failure 10, MIM#614822\nReview for gene: SEPT12 was set to GREEN\nAdded comment: i) PMID: 22479503- A homozygous truncating variant (c.474 G>A) in 15 unrelated infertile men and 9 of them had teratozoospermia (88 to 99% of abnormal sperm);Transfection studies also showed that the mutant SEPT12 disrupted filament formation of wildtype SEPT12 in a dose-dependent manner.\r\nii) PMID:22275165- Two heterozygous missense variants (T89M and D197N) in a man with asthenoteratozoospermia and another man with oligoasthenozoospermia. Functional analysis demonstrated that both mutations adversely affected filament formation of wildtype SEPT12 in a dose-dependent manner.\r\niii) PMID: 35547809- A heterozygous missense variant (p.Cys24Ter) in the male partner of a patient couple, who had a previous fertilization failure (FF) after intracytoplasmic sperm injection (ICSI) and became pregnant after ICSI together with artificial oocyte activation (AOA). Their Septin12 knockout mice study also showed that Septin12 -/- male mice are infertile with reduced sperm counts and abnormal sperm morphology but male Septin12 +/− mice are fertile. This observation contradicted with the previous studies showed that male Septin12 +/− chimeric mice are infertile (Lin et al., 2009, PMID: 19359518). The main difference is that the Septin12 +/− chimeric mice were generated in Lin et al., 2009 (PMID: 19359518) was by blastocyst injection of Septin12 +/− embryonic stem cells (ESCs), while their Septin12 +/− founder mice were established by CRISPR/Cas9 mediated gene editing in the zygote. The quality of injected Septin12 +/− ESCs might affect the experimental result. \nSources: Literature",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:51:51.895761+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT12 as ready",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:51:51.890068+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept12 has been classified as Green List (High Evidence).",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:51:44.850529+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPT12 were changed from #MIM:614822 to Spermatogenic failure 10, MIM#614822",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:51:34.807278+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPT12 as Green List (high evidence)",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:51:34.798250+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept12 has been classified as Green List (High Evidence).",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:51:25.579852+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPT12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 10, MIM#614822; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:50:15.640635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCZ1 as ready",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:50:15.634785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcz1 has been classified as Green List (High Evidence).",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:50:08.040383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCZ1 as Green List (high evidence)",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:50:08.031550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcz1 has been classified as Green List (High Evidence).",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:49:53.353472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCZ1 was added\ngene: PLCZ1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLCZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCZ1 were set to 26721930; 31463947; 36593593; 37004249\nPhenotypes for gene: PLCZ1 were set to Spermatogenic failure 17, MIM# 617214\nReview for gene: PLCZ1 was set to GREEN\nAdded comment: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.\r\nii) 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.\r\niii) 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.\r\niv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure \nSources: Literature",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:48:21.021199+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCZ1 as ready",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:48:21.015360+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcz1 has been classified as Green List (High Evidence).",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:48:18.581726+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCZ1 were changed from #MIM:617214 to Spermatogenic failure 17, MIM# 617214",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:48:07.924514+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCZ1 as Green List (high evidence)",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:48:07.918767+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcz1 has been classified as Green List (High Evidence).",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:47:57.102291+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCZ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 17, MIM# 617214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:40:56.885033+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXO1 as ready",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:40:56.877517+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exo1 has been classified as Green List (High Evidence).",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:40:52.440179+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXO1 as Green List (high evidence)",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:40:52.434534+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exo1 has been classified as Green List (High Evidence).",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:40:44.030142+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXO1 was added\ngene: EXO1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: EXO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXO1 were set to 39595984; 32772095; 36385415\nPhenotypes for gene: EXO1 were set to Primary ovarian failure, MONDO:0005387, EXO1-related\nReview for gene: EXO1 was set to GREEN\nAdded comment: 1. PMID:39595984- heterozygous nonsense variant (p.Glu829Ter) in an European female with diminished ovarian reserve\r\n2. PMID:32772095- heterozygous missense variant (p.Thr52Ser) in a Chinese patient with POI, which impaired the meiotic process in budding yeast cells and analysis of transfected HEK293 cells demonstrated impaired efficiency of homologous recombination repair for DNA double-stranded breaks with the mutant compared to wildtype EXO1\r\n3. PMID:36385415- heterozygous nonsense variant (p.Tyr742Ter) in a case (C23) with recurrent pregnancy loss (RPL), primary infertility (PI), recurrent implantation failure (RIF) \nSources: Literature",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:37:29.340249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXO1 as ready",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:37:29.332414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exo1 has been classified as Green List (High Evidence).",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:37:21.500958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXO1 as Green List (high evidence)",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:37:21.494179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exo1 has been classified as Green List (High Evidence).",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:37:06.106254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXO1 was added\ngene: EXO1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXO1 were set to 39595984; 32772095; 36385415\nPhenotypes for gene: EXO1 were set to Primary ovarian failure, MONDO:0005387, EXO1-related\nReview for gene: EXO1 was set to GREEN\nAdded comment: 1. PMID:39595984- heterozygous nonsense variant (p.Glu829Ter) in an European female with diminished ovarian reserve\r\n2. PMID:32772095- heterozygous missense variant (p.Thr52Ser) in a Chinese patient with POI, which impaired the meiotic process in budding yeast cells and analysis of transfected HEK293 cells demonstrated impaired efficiency of homologous recombination repair for DNA double-stranded breaks with the mutant compared to wildtype EXO1\r\n3. PMID:36385415- heterozygous nonsense variant (p.Tyr742Ter) in a case (C23) with recurrent pregnancy loss (RPL), primary infertility (PI), recurrent implantation failure (RIF) \nSources: Literature",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:35:02.610841+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXO1 as ready",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:35:02.603974+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exo1 has been classified as Green List (High Evidence).",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:35:00.271519+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXO1 were changed from MONDO:0005387 to Primary ovarian failure, MONDO:0005387, EXO1-related",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:34:51.173155+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXO1 as Green List (high evidence)",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:34:51.164796+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exo1 has been classified as Green List (High Evidence).",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:34:40.129182+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian failure, MONDO:0005387, EXO1-related; Mode of inheritance: None",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:33:29.670502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX3Y as ready",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:33:29.664321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3y has been classified as Green List (High Evidence).",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:33:04.607402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX3Y as Green List (high evidence)",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:33:04.599029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3y has been classified as Green List (High Evidence).",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:32:49.257164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX3Y was added\ngene: DDX3Y was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DDX3Y was set to Other\nPublications for gene: DDX3Y were set to 36997603\nPhenotypes for gene: DDX3Y were set to Azoospermia, MONDO:0100459, DDX3Y-related\nReview for gene: DDX3Y was set to GREEN\nAdded comment: PMID:36997603- Four (3 German, 1 Estonian) unrelated men with non-obstructive azoospermia carrying different LOF variants- absent in the gnomAD database (v2.1.1), abrogate at least the sequence of the C-terminal helicase domain, and are predicted to lead to degradation of the transcripts by nonsense-mediated decay. All four patients shared histological phenotype of Sertoli cell-only (SCO), reduced testicular volume, and had elevated FSH upon primary or later presentation indicative of spermatogenic failure.\r\n\r\nMode of inheritance: Y-linked \nSources: Expert Review",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:31:21.256765+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX3Y as ready",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:31:21.251267+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3y has been classified as Green List (High Evidence).",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:31:16.868631+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX3Y were changed from MONDO:0100459 to Azoospermia, MONDO:0100459, DDX3Y-related",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:29:49.273048+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX3Y as Green List (high evidence)",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T07:29:49.264776+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3y has been classified as Green List (High Evidence).",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-03T04:17:10.369471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2417",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CFAP221: Rating: AMBER; Mode of pathogenicity: None; Publications: 31636325, 39362668; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-04-03T00:09:35.092883+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TEX11 was added\ngene: TEX11 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TEX11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TEX11 were set to 25970010; 29661171; 34621296; 37124723\nPhenotypes for gene: TEX11 were set to #MIM:309120\nReview for gene: TEX11 was set to GREEN\nAdded comment: i) PMID:25970010- hemizygous variants in 7 out of of 289 azoospermic men, including a 90kb exonic deletion (Ex10-12) in 2 European men, 2 missense variants in 2 European/German men, and 3 splice variants in two white and one Arabic men.\r\n\r\nii) PMID: 29661171 (2018)- a novel hemizygous missense variant (W856C) in two brothers with azoospermia (absent in the mother- ?can it be gonadal mosaicism). Their testicular biopsy revealed meiotic arrest and no post-meiotic round spermatids and mature spermatozoa were observed.\r\n\r\niii) PMID: 34621296 (2021)- seven novel hemizygous variants in three familial (one missense, two splice) and four NOA-affected sporadic (three frameshift, one nonsense) cases\r\n\r\niv) PMID: 37124723 (2023)- three novel hemizygous variants ( p.R105*, p.K143Q, and p.G859R) in three unrelated NOA males and their histological analysis of testicular biopsy specimens revealed thicker basement membrane of the seminiferous tubules and poorly developed spermatocytes. \nSources: Literature",
"entity_name": "TEX11",
"entity_type": "gene"
},
{
"created": "2025-04-02T23:45:46.200062+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SPAG6 was added\ngene: SPAG6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SPAG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPAG6 were set to 35232447; 38073178; 32124190\nPhenotypes for gene: SPAG6 were set to MONDO:0004983\nReview for gene: SPAG6 was set to GREEN\nAdded comment: i) PMID: 35232447- two homozygous variants (F1 II-1: p. A103D; F2 II-1:p. K196Sfs*6) in two unrelated Han Chinese men with nonsyndromic asthenoteratozoospermia with severe multiple morphological abnormalities of the sperm flagella. Immunostaining and WB showed lower SPAG6 expression in spermatozoa of both affected males. The couple with the missense variant as able to conceive successfully after undergoing ICSI.\r\nii) PMID: 38073178- a homozygous missense p.R310W in three brothers (two brothers with both asthenozoospermia and oligozoospermia, third brother with azoospermia)\r\niii) PMID: 32124190- a novel compound heterozygous variant (c.143_145del: p.48_49del, c.585delA: p.Lys196Serfs*6) in an infertile PCD patient with severe with asthenoteratozoospermia, presented with morphological defects of sperm flagella and lower mRNA and protein expression in mutant sperms. \nSources: Literature",
"entity_name": "SPAG6",
"entity_type": "gene"
},
{
"created": "2025-04-02T19:49:59.603392+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SEPT12 was added\ngene: SEPT12 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SEPT12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SEPT12 were set to 22479503; 22275165; 35547809\nPhenotypes for gene: SEPT12 were set to #MIM:614822\nReview for gene: SEPT12 was set to GREEN\nAdded comment: i) PMID: 22479503- A homozygous truncating variant (c.474 G>A) in 15 unrelated infertile men and 9 of them had teratozoospermia (88 to 99% of abnormal sperm);Transfection studies also showed that the mutant SEPT12 disrupted filament formation of wildtype SEPT12 in a dose-dependent manner.\r\nii) PMID:22275165- Two heterozygous missense variants (T89M and D197N) in a man with asthenoteratozoospermia and another man with oligoasthenozoospermia. Functional analysis demonstrated that both mutations adversely affected filament formation of wildtype SEPT12 in a dose-dependent manner.\r\niii) PMID: 35547809- A heterozygous missense variant (p.Cys24Ter) in the male partner of a patient couple, who had a previous fertilization failure (FF) after intracytoplasmic sperm injection (ICSI) and became pregnant after ICSI together with artificial oocyte activation (AOA). Their Septin12 knockout mice study also showed that Septin12 -/- male mice are infertile with reduced sperm counts and abnormal sperm morphology but male Septin12 +/− mice are fertile. This observation contradicted with the previous studies showed that male Septin12 +/− chimeric mice are infertile (Lin et al., 2009, PMID: 19359518). The main difference is that the Septin12 +/− chimeric mice were generated in Lin et al., 2009 (PMID: 19359518) was by blastocyst injection of Septin12 +/− embryonic stem cells (ESCs), while their Septin12 +/− founder mice were established by CRISPR/Cas9 mediated gene editing in the zygote. The quality of injected Septin12 +/− ESCs might affect the experimental result. \r\n\r\nNote:#MIM:614822 stated as AD, but there's evidence suggesting AR \nSources: Literature",
"entity_name": "SEPT12",
"entity_type": "gene"
},
{
"created": "2025-04-02T19:27:49.092622+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.\r\nii) 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.\r\niii) 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.\r\niv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure \r\nSources: Literature; to: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.\r\nii) 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.\r\niii) 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.\r\niv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure \r\nSources: Literature",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-02T19:27:37.704457+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.\r\nii) 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.\r\niii) 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.\r\niv) PMID: 37004249 (2023)- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure \nSources: Literature; to: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.\r\nii) 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.\r\niii) 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.\r\niv) PMID: 37004249- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure \r\nSources: Literature",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-02T19:27:12.160816+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PLCZ1 was added\ngene: PLCZ1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PLCZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCZ1 were set to 26721930; 31463947; 36593593; 37004249\nPhenotypes for gene: PLCZ1 were set to #MIM:617214\nReview for gene: PLCZ1 was set to GREEN\nAdded comment: i) PMID:26721930- homozygous missense variant (I489F) in 2 Tunisian brothers with infertility due to oocyte activation failure.\r\nii) 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.\r\niii) 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.\r\niv) PMID: 37004249 (2023)- previously reported homozygous variant (C196X) in two unrelated men with infertility due to total fertilization failure \nSources: Literature",
"entity_name": "PLCZ1",
"entity_type": "gene"
},
{
"created": "2025-04-02T19:14:35.774693+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: EXO1 was added\ngene: EXO1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: EXO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXO1 were set to 39595984; 32772095; 36385415\nPhenotypes for gene: EXO1 were set to MONDO:0005387\nReview for gene: EXO1 was set to GREEN\nAdded comment: 1. PMID:39595984- heterozygous nonsense variant (p.Glu829Ter) in an European female with diminished ovarian reserve\r\n2. PMID:32772095- heterozygous missense variant (p.Thr52Ser) in a Chinese patient with POI, which impaired the meiotic process in budding yeast cells and analysis of transfected HEK293 cells demonstrated impaired efficiency of homologous recombination repair for DNA double-stranded breaks with the mutant compared to wildtype EXO1\r\n3. PMID:36385415- heterozygous nonsense variant (p.Tyr742Ter) in a case (C23) with recurrent pregnancy loss (RPL), primary infertility (PI), recurrent implantation failure (RIF) \nSources: Literature",
"entity_name": "EXO1",
"entity_type": "gene"
},
{
"created": "2025-04-02T18:50:04.436065+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: PMID:36997603- 4 (3 German, 1 Estonian) unrelated men with non-obstructive azoospermia carrying different LOF variants- absent in the gnomAD database (v2.1.1), abrogate at least the sequence of the C-terminal helicase domain, and are predicted to lead to degradation of the transcripts by nonsense-mediated decay. All four patients shared histological phenotype of Sertoli cell-only (SCO), reduced testicular volume, and had elevated FSH upon primary or later presentation indicative of spermatogenic failure.\r\n\r\nMode of inheritance: Y-linked \nSources: Literature; to: PMID:36997603- Four (3 German, 1 Estonian) unrelated men with non-obstructive azoospermia carrying different LOF variants- absent in the gnomAD database (v2.1.1), abrogate at least the sequence of the C-terminal helicase domain, and are predicted to lead to degradation of the transcripts by nonsense-mediated decay. All four patients shared histological phenotype of Sertoli cell-only (SCO), reduced testicular volume, and had elevated FSH upon primary or later presentation indicative of spermatogenic failure.\r\n\r\nMode of inheritance: Y-linked \r\nSources: Literature",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-02T18:49:12.462731+11:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.0",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DDX3Y was added\ngene: DDX3Y was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DDX3Y was set to Other\nPublications for gene: DDX3Y were set to 36997603\nPhenotypes for gene: DDX3Y were set to MONDO:0100459\nReview for gene: DDX3Y was set to GREEN\nAdded comment: PMID:36997603- 4 (3 German, 1 Estonian) unrelated men with non-obstructive azoospermia carrying different LOF variants- absent in the gnomAD database (v2.1.1), abrogate at least the sequence of the C-terminal helicase domain, and are predicted to lead to degradation of the transcripts by nonsense-mediated decay. All four patients shared histological phenotype of Sertoli cell-only (SCO), reduced testicular volume, and had elevated FSH upon primary or later presentation indicative of spermatogenic failure.\r\n\r\nMode of inheritance: Y-linked \nSources: Literature",
"entity_name": "DDX3Y",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:25:29.258498+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZR as ready",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:25:29.246488+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezr has been classified as Red List (Low Evidence).",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:25:18.944783+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EZR was added\ngene: EZR was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: EZR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EZR were set to 40137958\nPhenotypes for gene: EZR were set to Congenital enteropathy, MONDO:0009173, EZR-related\nReview for gene: EZR was set to RED\nAdded comment: Homozygous LoF variant c. 356dup (p. Glu120*) - present in gnomAD v4.1 (rare enough for AR condition) Infant from consanguineous parents with intractable diarrhea and failure to thrive. A supportive functional assay showing the variant is predicted to result in NMD was conducted. No other reports of other variants in this gene to support this gene disease association as of yet. \nSources: Literature",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:23:53.489280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EZR as ready",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:23:53.483585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezr has been classified as Red List (Low Evidence).",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:23:46.961810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EZR as Red List (low evidence)",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:23:46.956162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ezr has been classified as Red List (Low Evidence).",
"entity_name": "EZR",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:52.051178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH3G as ready",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:52.045460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3g has been classified as Green List (High Evidence).",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:42.951663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDH3G as Green List (high evidence)",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:42.946097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3g has been classified as Green List (High Evidence).",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:22.271870+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH3G as ready",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:22.262365+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3g has been classified as Green List (High Evidence).",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:18.545423+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IDH3G as Green List (high evidence)",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:22:18.539305+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3g has been classified as Green List (High Evidence).",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:21:06.451083+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C19orf44 as ready",
"entity_name": "C19orf44",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:21:06.444649+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf44 has been classified as Green List (High Evidence).",
"entity_name": "C19orf44",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:21:01.793910+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C19orf44 as Green List (high evidence)",
"entity_name": "C19orf44",
"entity_type": "gene"
},
{
"created": "2025-04-02T17:21:01.784960+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c19orf44 has been classified as Green List (High Evidence).",
"entity_name": "C19orf44",
"entity_type": "gene"
}
]
}