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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1058",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1056",
"results": [
{
"created": "2022-01-06T17:31:25.401178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA8 were changed from CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME to Cataract 1, multiple types, MIM# 116200; Microphthalmia",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:31:10.678259+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA8 were set to ",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:29:58.774129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:29:18.007923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene is associated with a large number of phenotypes, but ID is not a typical feature of any of these conditions.; to: Gene is associated with a large number of fatally-relevant phenotypes.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:28:56.720172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:28:56.709407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:28:51.935971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Syndactyly, type III, MIM# 186100",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:28:29.168098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GJA1: Changed phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Syndactyly, type III, MIM# 186100",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:27:58.253724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GJA1: Changed phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:27:28.539398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GJA1: Changed rating: GREEN",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:26:56.138877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF5 as ready",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:26:56.127540+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf5 has been classified as Green List (High Evidence).",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:26:52.005774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF5 were changed from MULTIPLE SYNOSTOSES SYNDROME TYPE 2; ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE; BRACHYDACTYLY TYPE A1; SYMPHALANGISM PROXIMAL SYNDROME; DU PAN SYNDROME; BRACHYDACTYLY TYPE C; ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE; BRACHYDACTYLY TYPE A2 to Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900)",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:26:37.892402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF5 were set to ",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:26:26.642697+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:08:08.793579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX2 as ready",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T17:08:08.784360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:55:22.672627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX2 were changed from to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:54:48.791969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX2 were set to ",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:54:29.233123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:53:55.129676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX2 as Amber List (moderate evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:53:55.118691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:52:59.589174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC27A4 as ready",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:52:59.551279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc27a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:52:14.393681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC27A4 were changed from to Ichthyosis prematurity syndrome, MIM#608649",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:51:57.425380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC27A4 were set to ",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:51:39.354021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC27A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:49:50.336429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN1 as ready",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:49:50.326390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:49:45.867367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN1 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 3, MIM# 615706",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:49:31.157927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:42:06.434236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A24 were set to ",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:41:51.077437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:41:37.244484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC25A24: Changed rating: GREEN",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:41:29.092642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:39:51.452350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM# 612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:39:07.184129+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDFY3 as ready",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:39:07.174160+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdfy3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:39:02.056244+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDFY3 as Amber List (moderate evidence)",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:39:02.046383+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdfy3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:37:41.670906+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GEMIN5 as ready",
"entity_name": "GEMIN5",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:37:41.660756+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gemin5 has been classified as Green List (High Evidence).",
"entity_name": "GEMIN5",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:37:37.662399+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192",
"entity_name": "GEMIN5",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:37:08.766238+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GEMIN5 as ready",
"entity_name": "GEMIN5",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:37:08.757193+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gemin5 has been classified as Green List (High Evidence).",
"entity_name": "GEMIN5",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:37:04.091024+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192",
"entity_name": "GEMIN5",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:35:33.894719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A20 as ready",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:35:33.882685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:35:29.530457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A20 were changed from CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY to Carnitine-acylcarnitine translocase deficiency, MIM#212138",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:35:16.482665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A20 were set to ",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:35:04.466394+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A20 as Amber List (moderate evidence)",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:35:04.450079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:34:50.908352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.; to: Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.\r\n\r\nUnclear if can present antenatally.",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:34:27.424889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC25A20: Changed rating: AMBER; Changed publications: 34784499, 32337051",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:33:37.837243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).\r\n\r\nPMID23727221 and PMID30223900 - TBX2 gene and TBX2 gene promoter sequencing in congenital heart disease cohorts versus controls - not enough supportive evidence for variant pathogenicity, including no segregation data. Variants prevalent in population databases also included as likely pathogenic.\r\n\r\nPMID 20635360 - de novo dup 17q23.2 encompassing TBX2 gene in boy with cognitive impairment, multiple congenital defects and prenatal onset growth restriction. Part of BCAS3 gene (associated with autosomal recessive Hengel-Maroofian-Schols syndrome) also included in duplication. No supportive evidence of TBX2 gene function impairment in the patient provided.; to: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).\r\n\r\nPMID23727221 and PMID30223900 - TBX2 gene and TBX2 gene promoter sequencing in congenital heart disease cohorts versus controls - not enough supportive evidence for variant pathogenicity, including no segregation data. Variants prevalent in population databases also included as potentially disease causing.\r\n\r\nPMID 20635360 - de novo dup 17q23.2 encompassing TBX2 gene in boy with cognitive impairment, multiple congenital defects and prenatal onset growth restriction. Part of BCAS3 gene (associated with autosomal recessive Hengel-Maroofian-Schols syndrome) also included in duplication. No supportive evidence of TBX2 gene function impairment in the patient provided.",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:33:14.859750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726930, 23727221, 20635360, 30223900; Phenotypes: Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:32:19.793059+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC25A20: Added comment: Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.; Changed rating: GREEN",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:31:30.242959+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1900",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC27A4 as ready",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:31:30.230433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1900",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc27a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:31:23.558170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21856041, 19631310, 31168818; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:31:03.253077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1900",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC27A4 were changed from ICHTHYOSIS PREMATURITY SYNDROME to Ichthyosis prematurity syndrome, MIM#608649",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:30:54.005113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1899",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC27A4 were set to ",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:30:34.682902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:30:33.796551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1898",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21856041, 19631310, 31168818; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC27A4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:30:13.259462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV4 were changed from METATROPIC DYSPLASIA; SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE to Brachyolmia type 3, MIM# 113500; Metatropic dysplasia, MIM# 156530; SED, Maroteaux type, MIM# 184095; Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:29:52.576998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:28:31.808161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TRPV6: The bi-allleic disorder is pertinent to this panel.",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:28:11.819323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV6 were changed from Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism to Hyperparathyroidism, transient neonatal, MIM#618188",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:27:53.577571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPV6 were set to 29861107",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:27:34.810609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:27:21.450831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:23:39.247780+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC1 were changed from TUBEROUS SCLEROSIS TYPE 1 to Tuberous sclerosis-1, MIM# 191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:23:22.284649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:22:33.839617+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSC2 were changed from TUBEROUS SCLEROSIS TYPE 2; LYMPHANGIOLEIOMYOMATOSIS to Tuberous sclerosis-2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:22:18.979854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:21:04.738182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1889",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542 23913798 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EDN1",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:20:14.637413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1889",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC26A3 as ready",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:20:14.626271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1889",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:20:08.256227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1889",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type 214700 to Diarrhea 1, secretory chloride, congenital, MIM#214700",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:19:53.886239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1888",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SLC26A3 were set to ",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:19:48.818728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC37 were changed from TRICHOHEPATOENTERIC SYNDROME to Trichohepatoenteric syndrome 1, MIM# 222470",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:19:06.872621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC37 were set to ",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:18:51.964574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1885",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 31477378, 21394828; Phenotypes: Diarrhea 1, secretory chloride, congenital, MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:17:50.663445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC7A were changed from INTESTINAL ATRESIA, MULTIPLE to Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:17:35.042863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC7A were set to ",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:16:44.021001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD6 as ready",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:16:44.009326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:16:35.980808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD6 were changed from to {Radioulnar synostosis, nonsyndromic} 179300; {Craniosynostosis 7, susceptibility to} 617439; Aortic valve disease 2 MIM# 614823",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:16:12.988141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD6 were set to ",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:15:53.945222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:15:35.717214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMAD6: Changed phenotypes: {Radioulnar synostosis, nonsyndromic} 179300, {Craniosynostosis 7, susceptibility to} 617439, Aortic valve disease 2 MIM# 614823",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:15:16.566251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31138930, 32499606, 27606499, 22275001, 28659821, 30963242, 30848080, 30796334; Phenotypes: {Radioulnar synostosis, nonsyndromic} 179300, {Craniosynostosis 7, susceptibility to} 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:12:36.860844+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD6 as ready",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:12:36.849636+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:12:19.174424+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD6 were changed from 179300 to {Radioulnar synostosis, nonsyndromic}\t179300",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:12:17.757655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC26A2 as ready",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:12:17.747226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc26a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:11:46.373982+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD6 as Green List (high evidence)",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:11:46.364683+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad6 has been classified as Green List (High Evidence).",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2022-01-06T16:10:16.460868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A2 were changed from to Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900",
"entity_name": "SLC26A2",
"entity_type": "gene"
}
]
}