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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=499",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=497",
"results": [
{
"created": "2024-01-04T14:51:23.791571+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:51:23.778289+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:51:09.074407+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Green List (high evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:51:09.066115+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:50:31.540174+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:50:31.523564+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:50:08.575956+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Amber List (moderate evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:50:08.564210+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:49:32.974588+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:49:32.965302+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:49:27.831022+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Green List (high evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:49:27.818391+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:48:33.559875+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:47:19.965552+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPIN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:46:37.038627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPIN4 as ready",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:46:37.027468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:46:25.999587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPIN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:46:06.547965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPIN4 as Amber List (moderate evidence)",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:46:06.536660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:45:43.009291+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPIN4 as ready",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:45:42.975362+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:45:18.000355+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX8 as ready",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:45:17.987466+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:45:11.344596+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX8 as Red List (low evidence)",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:45:11.330645+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:44:34.540476+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX8 as ready",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:44:34.530639+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:44:29.679784+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX8 as Red List (low evidence)",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:44:29.668028+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:43:37.661440+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CP as ready",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:43:37.646337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:43:25.888374+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CP as Amber List (moderate evidence)",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:43:25.877236+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:32:41.166441+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BORCS8 as ready",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:32:41.155538+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:32:36.257870+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BORCS8 as Green List (high evidence)",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:32:36.244621+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:32:14.257733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BORCS8 as ready",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:32:14.235321+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:31:00.830348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BORCS8 as Green List (high evidence)",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:31:00.818432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:30:04.849869+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP1 as ready",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:30:04.837964+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:28:27.431163+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTPBP1 as Green List (high evidence)",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:28:27.419908+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:27:49.299995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP1 as ready",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:27:49.283780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:27:38.617990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTPBP1 as Green List (high evidence)",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:27:38.608541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp1 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:26:54.613071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACHD1 as ready",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:26:54.602414+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cachd1 has been classified as Green List (High Evidence).",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:26:47.454820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACHD1 as Green List (high evidence)",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:26:47.442349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cachd1 has been classified as Green List (High Evidence).",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:26:25.134883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACHD1 as ready",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:26:25.114584+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cachd1 has been classified as Green List (High Evidence).",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:25:10.599162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACHD1 as Green List (high evidence)",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:25:10.581682+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cachd1 has been classified as Green List (High Evidence).",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:24:08.739850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACHD1 as ready",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:24:08.730868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cachd1 has been classified as Green List (High Evidence).",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:23:49.209085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACHD1 as Green List (high evidence)",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:23:49.197934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cachd1 has been classified as Green List (High Evidence).",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:21:24.123880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:20:45.724870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC13A3 was added\ngene: SLC13A3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)\nPhenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)\nReview for gene: SLC13A3 was set to GREEN\nAdded comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay. \nSources: Expert list",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:19:45.835001+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.298",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC13A3 was added\ngene: SLC13A3 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)\nPhenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)\nReview for gene: SLC13A3 was set to GREEN\nAdded comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay. \nSources: Expert list",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:18:48.625572+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2138",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC13A3 was added\ngene: SLC13A3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)\nPhenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)\nReview for gene: SLC13A3 was set to GREEN\nAdded comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay. \nSources: Expert list",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:16:44.956623+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.16",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: SLC13A3 was added\ngene: SLC13A3 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)\nPhenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)\nReview for gene: SLC13A3 was set to GREEN\nAdded comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay. \nSources: Expert list",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:12:22.507976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MAX was added\ngene: MAX was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAX were set to 38141607\nPhenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related\nReview for gene: MAX was set to GREEN\nAdded comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. \r\n\r\nAffected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. \nSources: Literature",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:11:05.447199+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5661",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MAX was added\ngene: MAX was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAX were set to 38141607\nPhenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related\nReview for gene: MAX was set to GREEN\nAdded comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. \r\n\r\nAffected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. \nSources: Literature",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:09:41.697477+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MAX was added\ngene: MAX was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAX were set to 38141607\nPhenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related\nReview for gene: MAX was set to GREEN\nAdded comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. \r\n\r\nAffected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. \nSources: Literature",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:07:36.458812+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.137",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MAX was added\ngene: MAX was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAX were set to 38141607\nPhenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related\nReview for gene: MAX was set to AMBER\nAdded comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. \r\n\r\nAffected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae.\r\n\r\nFunctional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. \nSources: Literature",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:04:35.903535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38141607; Phenotypes: Syndromic disease (MONDO:0002254), MAX-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:03:02.066473+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPIN4 as Amber List (moderate evidence)",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:03:02.052635+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:02:53.993650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX8 as ready",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:02:53.981615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:02:04.822867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX8 as Red List (low evidence)",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:02:04.810565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T13:00:47.452521+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.37",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to AMBER\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies. \r\n\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited\r\n\r\nOnly 2x probands with microphthalmia and/or optic disc coloboma. \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:59:59.032896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX8 as ready",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:59:59.019920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:59:45.897915+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BORCS8 as ready",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:59:45.882012+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:59:44.542351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX8 as Red List (low evidence)",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:59:44.530768+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox8 has been classified as Red List (Low Evidence).",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:58:21.211028+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BORCS8 as Green List (high evidence)",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:58:21.199019+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:58:04.062922+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.259",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SOX8 was added\ngene: SOX8 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: SOX8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOX8 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088\nPhenotypes for gene: SOX8 were set to Neurodevelopmental disorder (MONDO:0700092), SOX8-related\nReview for gene: SOX8 was set to RED\ngene: SOX8 was marked as current diagnostic\nAdded comment: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.\r\n\r\nBiallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). Functional studies on patient fibroblasts showed misregulation of downstream SOX8 targets. \nSources: Literature",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:39.301680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BORCS8 as ready",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:39.285422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:32.110059+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.245",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to PMID: 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:29.834937+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.33",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\ngene: ZRSR2 was marked as current diagnostic\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies. \r\n\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:25.900729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BORCS8 as Green List (high evidence)",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:25.892042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:57:01.947132+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.7",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SOX8 was added\ngene: SOX8 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: SOX8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SOX8 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088\nPhenotypes for gene: SOX8 were set to Neurodevelopmental disorder (MONDO:0700092), SOX8-related\nReview for gene: SOX8 was set to RED\ngene: SOX8 was marked as current diagnostic\nAdded comment: Proband presented to genetics clinic at 27 years of age with BMI -3.4SD, height -2.7SD, head circumference -1.8SD. She had mild intellectual delay and clinical features of a congenital, nonprogressive myopathy with moderate proximal and distal weakness. X-rays showed skeletal dysplasia, including cervical thoracic scoliosis and lumbar scoliosis. She was reported as having had weakness at birth with poor suck, micrognathia, hypotonia, and talipes. She was documented to have significant motor delay as a child. MRI of the brain demonstrated large posterior fossa CSF spaces.\r\n\r\nMuscle biopsy of the right medial gastrocnemius at age 1 demonstrated mild variation in fiber size with scattered, moderately small, rounded polyhedral fibers of both types. There were no significant dystrophic features. \r\n\r\nBiallelic SOX8 variants biallelic (NM_014587.3:c.422+5G>C; c.583dup p.(His195ProfsTer11)) were identified by WGS. The +5 variant was shown to affect splicing, while the frameshift variant resulted in production of low-level truncated protein (not NMD predicted). Functional studies on patient fibroblasts showed misregulation of downstream SOX8 targets. \nSources: Literature",
"entity_name": "SOX8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:56:54.428113+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BORCS8 as ready",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:56:54.416490+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: borcs8 has been classified as Green List (High Evidence).",
"entity_name": "BORCS8",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:56:06.761772+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.179",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to PMID: 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:55:29.860836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1457",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: CACHD1 was added\ngene: CACHD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACHD1 were set to PMID: 38158856\nPhenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder MONDO:0800439\nPenetrance for gene: CACHD1 were set to unknown\nReview for gene: CACHD1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "CACHD1",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:55:25.910582+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.54",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: SCN2A was added\ngene: SCN2A was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN2A were set to 38097767\nPhenotypes for gene: SCN2A were set to Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related\nReview for gene: SCN2A was set to GREEN\ngene: SCN2A was marked as current diagnostic\nAdded comment: - 1x in-frame del and 2x missense variants identified in three individuals with typical alternating\r\nhemiplegia of childhood (2x confirmed de novo, 1x unknown inheritance)\r\n- Loss of function demonstrated by functional studies of all three variants (mutant transcripts transfected into HEK293T cells showed either complete loss of function or altered electrophysiological properties) \nSources: Literature",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-01-04T12:55:21.534319+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.9",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: ZRSR2 was added\ngene: ZRSR2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\ngene: ZRSR2 was marked as current diagnostic\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies. \r\n\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Literature",
"entity_name": "ZRSR2",
"entity_type": "gene"
}
]
}