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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=663",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=661",
"results": [
{
"created": "2022-12-16T11:24:13.539819+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pth1r has been classified as Red List (Low Evidence).",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:24:09.285636+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTH1R were changed from Metaphyseal chondrodysplasia to Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:23:55.925063+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTH1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:23:42.683812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTH1R as Red List (low evidence)",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:23:42.670393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pth1r has been classified as Red List (Low Evidence).",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:23:26.732155+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTH1R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Failure of tooth eruption, primary MIM#125350, Eiken syndrome MIM#600002, Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400, Chondrodysplasia, Blomstrand type MIM#215045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:19:24.161427+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRC as ready",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:19:24.147018+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptprc has been classified as Green List (High Evidence).",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:19:17.914768+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PTPRC.\nTag immunological tag was added to gene: PTPRC.",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:19:05.716523+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:14:50.419448+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGL as ready",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:14:50.403907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygl has been classified as Green List (High Evidence).",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:14:47.181582+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGL were changed from Glycogen storage disease VI to Glycogen storage disease VI, MIM# 232700",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:14:33.304741+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PYGL.\nTag metabolic tag was added to gene: PYGL.",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:14:18.605669+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:23:15.655262+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset, multi-system disorder\r\n\r\nTreatment: no specific treatment available (?Are these treatable by HSCT?)\r\n\r\nNon-genetic confirmatory test: not assessed; to: Established gene-disease association.\r\n\r\nChildhood onset, haematological disorder. Elliptocytosis, aneamia in some cases\r\n\r\nTreatment: no specific treatment available (?Are these treatable by HSCT?)\r\n\r\nNon-genetic confirmatory test: not assessed",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:22:26.895885+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SPTB were changed from Spherocytosis to Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:21:55.330472+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1489",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SPTB as Red List (low evidence)",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:21:55.319260+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1489",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptb has been classified as Red List (Low Evidence).",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:21:43.456441+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SPTB.",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:21:23.169236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SPTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:06:31.860848+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SPTA1 as ready",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:06:31.846405+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Red List (Low Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:06:24.013722+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SPTA1 were changed from Elliptocytosis to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:05:49.801793+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1487",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:05:36.389829+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1486",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SPTA1 as Red List (low evidence)",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:05:36.377842+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1486",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Red List (Low Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T16:05:02.841171+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1485",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:23:27.187865+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGM as ready",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:23:27.168639+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Red List (Low Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:23:23.889719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGM were changed from McCardle disease MIM# 608455 to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:23:11.337236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:23:01.506155+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYGM as Red List (low evidence)",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:23:01.488150+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygm has been classified as Red List (Low Evidence).",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T15:22:47.979963+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:39:07.590928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:39:07.577878+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Red List (Low Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:39:01.836346+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation to Capillary malformation-arteriovenous malformation 1, MIM#608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:38:44.647475+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASA1 as Red List (low evidence)",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:38:44.636008+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Red List (Low Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:36:11.864402+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:34:49.355863+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RB1.",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:31:00.905368+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RB1 as ready",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:31:00.892963+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rb1 has been classified as Green List (High Evidence).",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:30:50.710007+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RB1 were changed from Retinoblastoma to Retinoblastoma, MIM# 180200",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:30:32.852678+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cancer tag was added to gene: RB1.\nTag treatable tag was added to gene: RB1.",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:30:08.383521+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoblastoma, MIM# 180200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:16:02.913158+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:16:02.874438+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Green List (High Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:15:58.364178+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from Congenital myasthenic syndrome, MIM#616326 to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:15:42.139141+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: RAPSN.\nTag neurological tag was added to gene: RAPSN.",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:15:26.144758+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:09:49.382813+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAG1 as ready",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:09:49.369497+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rag1 has been classified as Green List (High Evidence).",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:09:45.734793+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAG1 were changed from Omenn syndrome, MIM#603554 to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:09:31.961689+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: RAG1.\nTag immunological tag was added to gene: RAG1.",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:09:19.750754+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:07:13.039010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAG2 as ready",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:07:13.020457+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rag2 has been classified as Green List (High Evidence).",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:07:04.565217+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAG2 were changed from Omenn syndrome, MIM#603554 to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:06:50.337179+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: RAG2.\nTag immunological tag was added to gene: RAG2.",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:06:29.086896+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457, Combined cellular and humoral immune defects with granulomas MIM# 233650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:03:28.143081+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB7A as ready",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:03:28.011657+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab7a has been classified as Red List (Low Evidence).",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:03:23.848545+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB7A were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 2B, MIM# 600882",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:02:20.328118+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB7A as Red List (low evidence)",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:02:20.305641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab7a has been classified as Red List (Low Evidence).",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-12-15T12:02:08.021600+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:59:23.996410+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:59:23.982995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Red List (Low Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:59:18.348783+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB3GAP2 as Red List (low evidence)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:59:18.336486+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Red List (Low Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:59:06.659000+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:57:56.132774+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP1 as ready",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:57:56.110503+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Red List (Low Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:57:51.193353+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome to Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:57:32.512258+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB3GAP1 as Red List (low evidence)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:57:32.499205+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Red List (Low Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:57:20.508659+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:54:49.576516+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB27A as ready",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:54:49.564381+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab27a has been classified as Green List (High Evidence).",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:54:44.187027+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB27A were set to ",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:54:26.875882+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RAB27A.\nTag immunological tag was added to gene: RAB27A.",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2022-12-15T11:54:12.434010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2022-12-15T08:25:25.728639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN4 were changed from Intellectual disability; developmental delay to Neurodevelopmental disorder, MONDO:0700092, PTPN4-related",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2022-12-15T08:24:26.798544+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN4 were changed from Intellectual disability; developmental delay to Neurodevelopmental disorder, MONDO:0700092, PTPN4-related",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:52:19.932213+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ORAI1 as ready",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:52:19.913840+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:52:14.147798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ORAI1 as Green List (high evidence)",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:52:14.135577+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:52:02.891395+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ORAI1.\nTag immunological tag was added to gene: ORAI1.",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:51:52.173673+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORAI1 was added\ngene: ORAI1 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORAI1 were set to Immunodeficiency 9, MIM# 612782\nReview for gene: ORAI1 was set to GREEN\nAdded comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)\r\n\r\nIncluded here for AR disease. Onset is in newborn period. Life-threatening.\r\n\r\nTreatment: BMT.\r\n\r\nNon-genetic confirmatory testing: T cell proliferation assay \nSources: Expert Review",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:49:36.555895+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAI1 as ready",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:49:36.544224+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rai1 has been classified as Red List (Low Evidence).",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:49:33.026572+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAI1 were changed from Smith-Magenis syndrome; Potocki-Lupski syndrome to Smith-Magenis syndrome (MIM#182290)",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:49:18.591794+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAI1 as Red List (low evidence)",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:49:18.579658+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rai1 has been classified as Red List (Low Evidence).",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:49:06.314466+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Magenis syndrome (MIM#182290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:47:26.274680+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM8A as ready",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2022-12-15T06:47:26.262568+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Red List (Low Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
}
]
}