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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=295",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=293",
"results": [
{
"created": "2025-02-07T16:42:44.793970+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A1 were set to ",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:42:20.455641+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UPB1 as ready",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:42:20.446624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: upb1 has been classified as Red List (Low Evidence).",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:42:16.172685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UPB1 were set to 24526388",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:42:03.009385+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, MIM #613161 to Beta-ureidopropionase deficiency, MIM# 613161; MONDO:0013164",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:41:27.214919+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:41:27.204683+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:41:23.122775+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:41:08.742200+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:40:57.153672+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECP2 were set to ",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:40:24.732514+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:40:24.715198+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:40:20.935836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic, 263700 (3) to Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:40:06.449943+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UROS were set to ",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:39:35.974700+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A2 as ready",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:39:35.961499+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:39:32.162987+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) to Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:39:15.585896+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A2 were set to ",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:38:41.038732+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1476",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 21885617, 33724704; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430, Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:38:34.177692+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED23 as ready",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:38:34.158194+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med23 has been classified as Green List (High Evidence).",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:38:17.122606+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED23 were changed from Mental retardation, autosomal recessive 18, 614249 (3) to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:38:03.913024+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED23 were set to ",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:37:40.616041+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD2A as ready",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:37:40.598979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd2a has been classified as Green List (High Evidence).",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:37:36.993650+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:37:20.758456+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD2A were set to ",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:36:43.775834+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:36:43.756097+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:36:40.996008+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:36:09.854538+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A3 were set to ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:35:46.170260+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:35:46.134894+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Green List (High Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:35:42.772551+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from McKusick-Kaufman syndrome, 236700 (3) to Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:35:30.052466+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:35:07.370129+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH1C as ready",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:35:07.357349+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush1c has been classified as Green List (High Evidence).",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:34:53.072985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, 276904 (3) to Usher syndrome, type 1C MIM# 276904, MONDO:0010171",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:34:40.410821+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH1C were set to ",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:34:10.121054+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VRK1 as ready",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:34:10.109405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Green List (High Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:34:06.236188+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:33:50.048685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VRK1 were set to ",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:33:27.115260+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR34 as ready",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:33:27.094668+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr34 has been classified as Green List (High Evidence).",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:33:23.198373+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) to Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:33:09.370460+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR34 were set to ",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:32:37.237266+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:32:37.226652+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:32:33.477691+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:32:18.401104+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:31:18.862898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX53 as ready",
"entity_name": "DDX53",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:31:18.836519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx53 has been classified as Green List (High Evidence).",
"entity_name": "DDX53",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:26:47.330841+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347, 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:23:45.528593+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:15:32.151068+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38554151, 19646678, 21937992, 25609612, 24126608, 27281532, 34169149, 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2025-02-07T15:59:30.065834+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C MIM# 276904, MONDO:0010171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2025-02-07T15:08:19.334315+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973238, 10973251, 12107442, 20472660, 15770229, 20177705, 28761321, 30718709; Phenotypes: Bardet-Biedl syndrome 6 MIM#605231, McKusick-Kaufman syndrome MIM#236700, MKKS-related ciliopathy MONDO:1040050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2025-02-07T15:06:58.751923+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 19387023, 20065143, 23423671; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:55:47.379689+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30043326, 32572202, 26005865, 26005868; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:50:29.615853+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present.; to: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present. Variants reported include nonsense and missense.",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:49:04.308166+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:48:05.560624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 19643445; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, 249270 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:47:35.565475+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30685241, 24027798, 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:40:32.782508+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402105, 10577905, 11071498, 16647997, 10508514, 31206249, 10986043, 11807877; Phenotypes: Encephalopathy, neonatal severe MIM#300673, Intellectual developmental disorder, X-linked syndromic 13 MIM#300055, Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:39:59.946294+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 35926322, 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161, MONDO:0013164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:31:03.237262+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, 601678 (3); Mode of inheritance: None",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:29:57.932170+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:29:45.998764+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:29:12.356190+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "commented on gene: TRMU: Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. \r\n\r\nHGNC approved symbol/name: TRMU\r\nIs the phenotype(s) severe and onset <18yo? Y \r\nKnown technical challenges? N \r\nGene reported in >3 independent families \r\n\r\n Yemenite Jewish founder variant, p.Tyr77His.",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T14:29:11.537872+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T13:32:52.456260+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33996686, 36814213; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2025-02-07T13:25:14.732979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161, 33293961; Phenotypes: Lissencephaly 8 MIM#617255, MONDO:0014992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2025-02-07T13:17:38.720272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024, 34096792; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, MONDO:0009794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-02-07T13:03:52.332437+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600, MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2025-02-07T12:36:40.333847+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, 249420 (3); Mode of inheritance: None",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2025-02-07T12:15:06.782952+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia, 616201 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGO1",
"entity_type": "gene"
},
{
"created": "2025-02-07T10:47:05.971486+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1460",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: PKD1L1 was added\ngene: PKD1L1 was added to Prepair 1000+. Sources: Expert list\nMode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKD1L1 were set to PMID: 33655537; PMID: 27616478\nPhenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal\tMIM#617205\nReview for gene: PKD1L1 was set to AMBER\nAdded comment: Variable penetrance but can cause major organ malformation, particularly cardiac, intestinal malformation, ciliary dyskinesia, hydrops. \nSources: Expert list",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2025-02-06T18:18:03.586603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: LAMC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: None",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2025-02-06T18:10:14.083451+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31302245, 31312705, 34912369; Phenotypes: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-02-06T17:58:56.100862+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26626498, 22983954, 20598275, 15806441, 27149178; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2025-02-06T17:10:44.567880+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 33865955, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM#615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2025-02-06T17:09:36.787363+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597, 18256682; Phenotypes: Myoclonic epilepsy of Lafora 2, MIM# 620681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2025-02-06T17:02:33.112601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2025-02-06T16:57:17.623800+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 19, MIM#601718, Retinal dystrophy, early-onset severe, MIM#248200, Stargardt disease 1, MIM#248200, Cone-rod dystrophy 3, MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2025-02-06T16:55:55.933183+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-02-06T16:45:07.962038+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8968742, 20301687; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2025-02-06T16:29:38.025594+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12969986, 23689198, 20301357, 34307257; Phenotypes: Neutropenia, severe congenital, X-linked, MIM#300299, Thrombocytopenia, X-linked, MIM#313900, Wiskott-Aldrich syndrome, MIM#301000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2025-02-06T16:16:49.248054+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12704386, 14765194, 24963046, 18315553; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2025-02-06T16:00:12.915062+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29400105, 8160750; Phenotypes: Deafness, autosomal recessive 2, MIM# 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:24:33.222271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2297",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39875538; Phenotypes: Craniofacial microsomia MONDO:0015397; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:24:23.481839+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Amber List (moderate evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:24:23.459443+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:23:56.180803+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Amber List (moderate evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:23:56.139778+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:22:06.029962+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SHROOM3 as Amber List (moderate evidence)",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:22:06.015346+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T15:21:06.396755+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SHROOM3 was added\ngene: SHROOM3 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature\nMode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHROOM3 were set to PMID: 39875538\nPhenotypes for gene: SHROOM3 were set to Craniofacial microsomia MONDO:0015397\nReview for gene: SHROOM3 was set to AMBER\nAdded comment: SHROOM3 has been implicated in facial development via GWAS, with association between SHROOM3 and HFM, cleft lip/palate, orofacial clefts, and neural tube defects. Human embryo expression data shows that SHROOM3 is mainly expressed in craniofacial mesoderm, neural progenitor cells, and somites in the head and trunk regions. Mouse Genome Informatics data shows that Shroom3 is expressed in various tissues during different stages of embryonic development, including the head mesenchyme, ear, eye, face, and nose.\r\n\r\nLi et al. (2025) performed SHROOM3 gene sequencing in 320 sporadic hemifacial microsomia patients. They identified 7 individuals with 7 deleterious missense variants (MAF <0.005, CADD >20, predicted deleterious with >3 silico tools). No in vitro/in vivo functional studies to assess the consequences of the variants and their role in HFM. \nSources: Literature",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-06T14:43:15.115231+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 16825436, 17993578, 21881043; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2025-02-06T14:27:47.676977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545681, 27545681, 27545674, 32179706, 26872069; Phenotypes: Developmental and epileptic encephalopathy 44, MIM#617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
}
]
}