HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=262",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=260",
"results": [
{
"created": "2025-04-24T11:13:02.417746+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD3 as ready",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:13:02.403803+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod3 has been classified as Green List (High Evidence).",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:12:59.884940+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10, 616165 (3) to Nemaline myopathy 10, MIM#616165",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:12:49.675995+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMOD3 were set to ",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:12:11.086819+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: LIPC.",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:12:00.474762+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:07:57.394769+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:07:57.387169+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:07:54.491963+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARS2 were changed from Perrault syndrome 4, 615300 (3) to Hydrops, lactic acidosis, and sideroblastic anaemia MIM#617021; Perrault syndrome 4 MIM#615300",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:07:40.558927+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARS2 were set to ",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:07:06.655772+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB2 as ready",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:07:06.649060+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb2 has been classified as Green List (High Evidence).",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:05:39.942350+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB2 were changed from Pierson syndrome, 609049 (3) to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:05:24.541775+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:05:16.779974+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1967",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC7A7 as ready",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:05:16.773545+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1967",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-04-24T11:05:13.310451+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1967",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC7A7 were set to ",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:59:58.018237+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1966",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:59:58.011172+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1966",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:59:52.178815+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1966",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: STIM1 were set to ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:58:47.405871+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1965",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TOE1 as ready",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:58:47.399997+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1965",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: toe1 has been classified as Green List (High Evidence).",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:58:43.916752+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1965",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: TOE1 were changed from Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 7 MIM#614969",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:58:30.307014+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1964",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TOE1 were set to ",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:51:49.748029+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1963",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:51:49.738093+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1963",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:51:46.396385+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1963",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, 204500 (3) to Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Spinocerebellar ataxia, autosomal recessive 7 MIM#609270",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:51:29.755386+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1962",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:46:12.503535+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1961",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TRAPPC11 as ready",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:46:12.496268+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1961",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: trappc11 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:46:03.117332+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1961",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TRAPPC11 were set to ",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:45:19.969014+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1960",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TRMT10A as ready",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:45:19.960323+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1960",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Green List (High Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:45:16.342075+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1960",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TRMT10A were set to ",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:44:19.893766+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1959",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: UBE3B as ready",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:44:19.887655+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1959",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Green List (High Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:44:15.578736+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1959",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: UBE3B were set to ",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:43:36.448276+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1958",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: USH1G as ready",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:43:36.441058+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1958",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ush1g has been classified as Green List (High Evidence).",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:43:33.489459+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1958",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: USH1G were set to ",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:42:53.828808+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1957",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: VIPAS39 as ready",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:42:53.818023+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1957",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: vipas39 has been classified as Green List (High Evidence).",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:42:50.998169+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1957",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: VIPAS39 were set to ",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:41:35.641002+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1956",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: VKORC1 as ready",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:41:35.638404+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1956",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single homozygous missense variant, Arg98Trp reported to cause the AR phenotype (PMID: 12704386). (ClinGen 2023) This phenotype causes intracranial haemmorhage in the first weeks of life and ongoing bleeding predisposition but this is reversed with vit K administration so highly treatable.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:41:35.616306+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1956",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: vkorc1 has been classified as Green List (High Evidence).",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:25:47.659891+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1956",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: XRCC4 as ready",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:25:47.653320+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1956",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: xrcc4 has been classified as Green List (High Evidence).",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:25:43.915868+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1956",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive to Short stature, microcephaly, and endocrine dysfunction MIM#616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:25:29.481928+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1955",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: XRCC4 were set to ",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:24:49.157955+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1954",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: XYLT2 as ready",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:24:49.151273+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1954",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:24:46.342656+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1954",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: XYLT2 were changed from Spondyloocular syndrome, 605822 (3), Autosomal recessive to Spondyloocular syndrome MIM#605822",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2025-04-24T10:23:46.109926+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1953",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: XYLT2 were set to ",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:57:44.796027+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ASTL was added\ngene: ASTL was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ASTL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASTL were set to 34704130; 37640117; 37133443\nPhenotypes for gene: ASTL were set to Oocyte/zygote/embryo maturation arrest 11, MIM# 619643\nReview for gene: ASTL was set to GREEN\nAdded comment: Literature in OMIM- PMID: 34704130- One Saudi family with 2 sisters with reduced or absent fertility due to oocyte maturation defect carrying a homozygous splice variant.\r\n\r\nNew papers (biallelic variants)\r\ni) PMID: 37640117 - Novel compound heterozygous missense variants (p.Arg117Cys and p.Arg274Trp) in a Chinese woman with primary infertility and polyspermy in IVF. Moreover, transfection studies using CHO-K1 cells indicated that mutant cells showed abnormal ovastacin zymogen activation or decreased enzyme stability.\r\n\r\nii) PMID: 37133443- Biallelic variants in four independent affected individuals with primary infertility. The frameshift variants significantly decreased the quantity of ASTL protein in vitro. And all missense variants affected the enzymatic activity that cleaves ZP2 in mouse egg in vitro. Three knock-in female mice (corresponding to three missense variants in patients) all show subfertility due to low embryo developmental potential. \nSources: Literature",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:49:14.622832+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FOXP3 was added\ngene: FOXP3 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FOXP3 were set to 28833278; 25546394; 26395338; 26387632; 26009232\nPhenotypes for gene: FOXP3 were set to X-linked immunodysregulation, polyendocrinopathy, and enteropathy, MIM# 304790\nReview for gene: FOXP3 was set to GREEN\nAdded comment: Multiple papers reported recurrent male miscarriages in different families:\r\ni) PMID: 28833278- hemizygous truncating variant (p.D303fs*87) in a most recent male IUFD fetus (hydrops fetalis and fetal death around 18 GA weeks) in a family with recurrent IUFD of 19 males in total occurred at ≤20 weeks of gestation, and the same variant was carried by all five healthy obligatory female carriers. Recent studies involving patients with unexplained recurrent spontaneous abortions have demonstrated that downregulation of Treg cells may be due to a significant decrease in the expression of the FOXP3 gene due to epigenetic suppression of FOXP3 through promoter methylation, thus increasing the risk for IUFD (PMID: 27785899)\r\n\r\nii) PMID: 25546394- Two unrelated families with clear evidence of fetal-onset IPEX syndrome (Family 1 had a family history of five miscarriages of males in two generations, positive for hemizygous p.R397W, family 2 with first two males died prematurely after birth and miscarriage of two monochorionic male twins, positive for hemizygous truncating variant (p.S107Nfs*204).\r\n\r\niii) PMID: 26395338- A family with the loss of two male fetuses as a result of fetal hydrops of unknown etiology due to novel nonsense variant (p.R337*).\r\n\r\niv)PMID: 26387632- The same p.R337* in an unrelated family with multiple male miscarriages occurring around 18 to 20 weeks of EGA and associated with hydrops fetalis and fetal akinesia.\r\n\r\nv) PMID: 26009232- A family with two miscarriages and three early IUFDs of male fetuses with hemizygous missense variant (p.L345F). \nSources: Literature",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:38:26.538573+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature on variants associated with ovarian failure presented in unrelated classic lipoid adrenal hyperplasia (LAH) patients:\r\ni) PMID: 38913505- Homozygous p.W147X, p.Arg182Cys, p.W250X, p.Gln258X, p.Leu260Pro, p.Leu275Pro with low/loss of function when tested in vitro. \r\n\r\nii) PMID: 36733346 - Novel compound heterozygous variants (p. Q258*/p. S186R)-p.Q258* generates a truncated protein while S186R disrupts STAR protein function. The residual STAR activities of p.S186R, p.Q258*, and p. S186R/p.Q258* were 13.9%, 7.3%, and 11.2%, respectively, of the wild-type, proving the main negative effects of the mutant proteins. \nSources: Literature; to: Literature on variants associated with ovarian failure presented in unrelated classic lipoid adrenal hyperplasia (LAH) patients:\r\ni) PMID: 38913505- Homozygous p.W147X, p.Arg182Cys, p.W250X, p.Gln258X, p.Leu260Pro, p.Leu275Pro with low/loss of function when tested in vitro. \r\n\r\nii) PMID: 36733346 - Novel compound heterozygous variants (p. Q258*/p. S186R)-p.Q258* generates a truncated protein while S186R disrupts STAR protein function. The residual STAR activities of p.S186R, p.Q258*, and p. S186R/p.Q258* were 13.9%, 7.3%, and 11.2%, of the wild-type protein activity, respectively. \r\nSources: Literature",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:36:40.354942+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: STAR was added\ngene: STAR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAR were set to 38913505; 36733346\nPhenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, MIM# 201710\nReview for gene: STAR was set to GREEN\nAdded comment: Literature on variants associated with ovarian failure presented in unrelated classic lipoid adrenal hyperplasia (LAH) patients:\r\ni) PMID: 38913505- Homozygous p.W147X, p.Arg182Cys, p.W250X, p.Gln258X, p.Leu260Pro, p.Leu275Pro with low/loss of function when tested in vitro. \r\n\r\nii) PMID: 36733346 - Novel compound heterozygous variants (p. Q258*/p. S186R)-p.Q258* generates a truncated protein while S186R disrupts STAR protein function. The residual STAR activities of p.S186R, p.Q258*, and p. S186R/p.Q258* were 13.9%, 7.3%, and 11.2%, respectively, of the wild-type, proving the main negative effects of the mutant proteins. \nSources: Literature",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:28:35.851264+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature in OMIM: PMIM: 25062452; 25899990; 26203179- biallelic variants reported for affected individuals with POI/spermatogenic failure (NOA)\r\n\r\nNew papers (biallelic variants for POI/NOA):\r\ni) PMID: 36373164- Two POI/DOR patients with biallelic LOF variants (Patient II-1 in Family 3 with compound heterozygous variants c.154C > T (p.Arg52*) and c.675del (p.Asp226Metfs*29); Patient II-1 in Family 6 with a homozygous donor splicing variant c.271 + 1G > A which led to exon 4 skipping and indel mutant p.Ala66_Leu91delinsVal).\r\n\r\nii) PMID: 35718780- Two NOA-affected patients with different biallelic CNVs (patient 1- novel heterozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous LOF (p.F230fs), patient 2- homozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del).\r\n\r\niii) PMID: 34718620- Compound heterozygous variants (p.Glu159Lys and p.Phe230Serfs*21) in a POI patient and a homozygous variant (NM_001143764.3: c.271 + 2T > C) in a NOA patient. \r\nSources: Literature; to: Literature in OMIM: PMIM: 25062452; 25899990; 26203179- biallelic variants reported for affected individuals with POI/spermatogenic failure (NOA)\r\n\r\nNew papers (biallelic variants for POI/NOA):\r\ni) PMID: 36373164- Two POI/DOR patients with biallelic LOF variants (Patient II-1 in Family 3 with compound heterozygous variants c.154C > T (p.Arg52*) and c.675del (p.Asp226Metfs*29); Patient II-1 in Family 6 with a homozygous donor splicing variant c.271 + 1G > A which led to exon 4 skipping and indel mutant p.Ala66_Leu91delinsVal).\r\n\r\nii) PMID: 35718780- Two NOA-affected patients with different biallelic CNVs (patient 1- novel heterozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous LOF (p.F230fs), patient 2- homozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del).\r\n\r\niii) PMID: 34718620- Compound heterozygous variants (p.Glu159Lys and p.Phe230Serfs*21) in a POI patient and a homozygous variant (NM_001143764.3: c.271 + 2T > C) in a NOA patient. \r\nSources: Literature\r\nMode of pathogenicity: Provide exceptions to loss-of-function",
"entity_name": "SYCE1",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:27:32.439242+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: SYCE1: Changed mode of pathogenicity: Other; Changed phenotypes: Premature ovarian failure 12, MIM# 616947, Spermatogenic failure 15 ,MIM# 616950",
"entity_name": "SYCE1",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:27:19.515799+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: SYCE1: Changed phenotypes: Premature ovarian failure 12, MIM# 616947, Spermatogenic failure 15 ,MIM#616950",
"entity_name": "SYCE1",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:26:01.622678+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature in OMIM: PMIM: 25062452; 25899990; 26203179- biallelic variants reported for affected individuals with POI/spermatogenic failure (NOA)\r\n\r\nNew papers (biallelic variants for POI/NOA):\r\ni) PMID: 36373164- Two POI/DOR patients with biallelic LOF variants (Patient II-1 in Family 3 with compound heterozygous variants c.154C > T (p.Arg52*) and c.675del (p.Asp226Metfs*29); Patient II-1 in Family 6 with a homozygous donor splicing variant c.271 + 1G > A which led to exon 4 skipping and indel mutant p.Ala66_Leu91delinsVal).\r\n\r\nii) PMID: 35718780- Two NOA-affected patients with different biallelic CNVs (patient 1- novel heterozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous LOF (p.F230fs), patient 2- homozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del).\r\n\r\niii) PMID: 34718620- Compound heterozygous variants (p.Glu159Lys and p.Phe230Serfs*21) in a POI patient and a homozygous variant (NM_001143764.3: c.271 + 2T > C) in a NOA patient. \nSources: Literature; to: Literature in OMIM: PMIM: 25062452; 25899990; 26203179- biallelic variants reported for affected individuals with POI/spermatogenic failure (NOA)\r\n\r\nNew papers (biallelic variants for POI/NOA):\r\ni) PMID: 36373164- Two POI/DOR patients with biallelic LOF variants (Patient II-1 in Family 3 with compound heterozygous variants c.154C > T (p.Arg52*) and c.675del (p.Asp226Metfs*29); Patient II-1 in Family 6 with a homozygous donor splicing variant c.271 + 1G > A which led to exon 4 skipping and indel mutant p.Ala66_Leu91delinsVal).\r\n\r\nii) PMID: 35718780- Two NOA-affected patients with different biallelic CNVs (patient 1- novel heterozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous LOF (p.F230fs), patient 2- homozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del).\r\n\r\niii) PMID: 34718620- Compound heterozygous variants (p.Glu159Lys and p.Phe230Serfs*21) in a POI patient and a homozygous variant (NM_001143764.3: c.271 + 2T > C) in a NOA patient. \r\nSources: Literature",
"entity_name": "SYCE1",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:25:27.943409+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: SYCE1 was added\ngene: SYCE1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: SYCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYCE1 were set to 25062452; 25899990; 26203179; 36373164; 35718780; 34718620\nPhenotypes for gene: SYCE1 were set to Premature ovarian failure 12, MIM# 616947, Spermatogenic failure 15 ,MIM# 616950\nMode of pathogenicity for gene: SYCE1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SYCE1 was set to GREEN\nAdded comment: Literature in OMIM: PMIM: 25062452; 25899990; 26203179- biallelic variants reported for affected individuals with POI/spermatogenic failure (NOA)\r\n\r\nNew papers (biallelic variants for POI/NOA):\r\ni) PMID: 36373164- Two POI/DOR patients with biallelic LOF variants (Patient II-1 in Family 3 with compound heterozygous variants c.154C > T (p.Arg52*) and c.675del (p.Asp226Metfs*29); Patient II-1 in Family 6 with a homozygous donor splicing variant c.271 + 1G > A which led to exon 4 skipping and indel mutant p.Ala66_Leu91delinsVal).\r\n\r\nii) PMID: 35718780- Two NOA-affected patients with different biallelic CNVs (patient 1- novel heterozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135111754_135427143del) and heterozygous LOF (p.F230fs), patient 2- homozygous intragenic deletion (seq[GRCh37] del(10)(10q26.3)chr10:g.135340247_135379115del).\r\n\r\niii) PMID: 34718620- Compound heterozygous variants (p.Glu159Lys and p.Phe230Serfs*21) in a POI patient and a homozygous variant (NM_001143764.3: c.271 + 2T > C) in a NOA patient. \nSources: Literature",
"entity_name": "SYCE1",
"entity_type": "gene"
},
{
"created": "2025-04-23T22:00:16.577669+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.63",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WT1 were set to 26358501; 34845858\nPhenotypes for gene: WT1 were set to Primary ovarian failure, MONDO:0005387\nReview for gene: WT1 was set to GREEN\nAdded comment: New papers reported variants associated with POI:\r\ni) PMID: 26358501- Two novel heterozygous missense variants (p. Pro126Ser in exon1 and p. Arg370His in exon7) in two unrelated POI patients, and functional study on these two missense variants showed in impaired transcription of downstream genes, including AMH, FSHR, CYP19 and CDH. \r\n\r\nii) PMID: 34845858- A de novo heterozygous nonsense variant p.R463* in a non-syndromic POI woman. Western blot analysis further demonstrated that the WT1 variant could produce a truncated WT1 isoform in vitro. \nSources: Literature",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:50:52.720373+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:50:52.714077+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Green List (High Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:50:48.824464+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF7 were changed from Hydrolethalus syndrome 2, 614120 (3) to Al-Gazali-Bakalinova syndrome MIM#607131; Hydrolethalus syndrome 2 MIM#614120; Acrocallosal syndrome MIM#200990; Joubert syndrome 12 MIM#200990",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:50:35.555835+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF7 were set to ",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:49:57.483996+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:49:57.476508+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:49:54.175102+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive to Alkuraya-Kucinskas syndrome MIM#617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:49:43.131862+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1109 were set to ",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:49:32.006652+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: KIAA1109.",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:56.491588+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNV2 as ready",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:56.484459+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnv2 has been classified as Green List (High Evidence).",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:49.394973+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNV2 were changed from Retinal cone dystrophy 3B, 610356 (3) to Retinal cone dystrophy 3B MIM#610356",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:38.985660+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNV2 were set to ",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:05.420152+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITK as ready",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:05.412901+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:48:02.681067+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITK were changed from Lymphoproliferative syndrome 1, 613011 (3) to Lymphoproliferative syndrome 1 MIM# 613011",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:47:52.431105+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITK were set to ",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:47:38.235386+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, haemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinaemia. Autoimmune disorders, such as autoimmune haemolytic anemia or renal disease, may also occur.; to: Established gene-disease association characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, haemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinaemia. Autoimmune disorders, such as autoimmune haemolytic anaemia or renal disease, may also occur.",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:47:30.386299+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:44:33.306719+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:44:33.299682+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Green List (High Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:44:30.592839+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile, 602088 (3) to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:44:13.639055+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:40:21.582449+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5K as ready",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:40:21.575505+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5k has been classified as Green List (High Evidence).",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:40:04.937961+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:39:51.836830+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5K were set to ",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:39:40.446409+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: INPP5K.",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:39:06.955075+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:39:06.929575+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:38:56.618821+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3) to Bardet-Biedl syndrome 20 MIM#619471; Retinitis pigmentosa 71 MIM#616394; Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:38:42.305160+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:38:13.903969+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDUA as ready",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:38:13.894903+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idua has been classified as Green List (High Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:38:10.884838+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, 607014 (3) to Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:37:56.967467+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IDUA",
"entity_type": "gene"
}
]
}