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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1081",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1079",
"results": [
{
"created": "2021-12-17T11:09:19.736065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 619658",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:08:04.437891+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658",
"entity_name": "USP53",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:07:12.457685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXB1 as ready",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:07:12.447294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb1 has been classified as Red List (Low Evidence).",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:07:05.150885+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXB1 were changed from FACIAL PARESIS, HEREDITARY CONGENITAL, 3 to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:06:52.343801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXB1 were set to ",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:06:38.859561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXB1 as Red List (low evidence)",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:06:38.846260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb1 has been classified as Red List (Low Evidence).",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:06:25.670817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXB1: Rating: RED; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744, MONDO:0013880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:04:35.876810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXB1 as ready",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:04:35.857925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb1 has been classified as Green List (High Evidence).",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:04:21.709194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXB1 were set to ",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:04:00.903813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXB1 were changed from to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:03:18.343491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-17T11:02:21.565980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:20:45.192895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLEC10 as ready",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:20:45.178539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec10 has been classified as Green List (High Evidence).",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:20:27.190005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLEC10 as ready",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:20:27.178959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec10 has been classified as Green List (High Evidence).",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:20:19.465376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:20:01.473012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLEC10 were set to ",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:19:41.948370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:19:22.695571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301481, 34740859; Phenotypes: 3MC syndrome 3, MONDO:0009554, 3MC syndrome 3, OMIM:248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:18:17.170634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLEC10 were set to ",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:18:05.596303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COLEC10 as Green List (high evidence)",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:18:05.586081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec10 has been classified as Green List (High Evidence).",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:17:52.801552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cleft lip/palate are a feature.; to: Cleft lip/palate are a feature. At least 4 families reported.",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:17:42.599034+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COLEC10: Changed publications: 28301481, 34740859",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:17:20.072004+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not reported as a feature in molecularly confirmed cases with variants in this gene.; to: Cleft lip/palate are a feature.",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:17:07.374506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COLEC10: Changed rating: GREEN",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:14:49.835728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3BP as ready",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:14:49.824065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Green List (High Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:14:43.582173+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:14:06.965343+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A3BP were set to ",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:13:38.872637+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:13:08.906146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:11:26.073736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3BP as ready",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:11:26.043603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Green List (High Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:11:17.943213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:10:58.165447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A3BP were set to ",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:10:32.395588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:10:12.873557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:09:11.402546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3BP as ready",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:09:11.392156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Red List (Low Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:09:07.651121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3BP were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 34, MIM# 616351",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:08:56.412687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A3BP were set to ",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:08:46.171751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3BP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:08:35.285836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A3BP as Red List (low evidence)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:08:35.275697+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Red List (Low Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:08:23.849755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A3BP: Changed rating: RED",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:07:27.237103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL25A1 as ready",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:07:27.225372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:07:23.020300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:07:06.793393+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL25A1 were set to ",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:06:53.522509+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL25A1 as Red List (low evidence)",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:06:53.512063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:06:42.368467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:05:05.374912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL13A1 as ready",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:05:05.357825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col13a1 has been classified as Green List (High Evidence).",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:04:59.299555+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL13A1 were set to ",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:04:46.492637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL13A1 as Green List (high evidence)",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:04:46.483140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col13a1 has been classified as Green List (High Evidence).",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:04:34.420615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL13A1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:00:45.827558+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MIB1 were set to ",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:00:36.435170+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Red List (low evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:00:36.426379+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Red List (Low Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T17:00:15.548816+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIB1: Changed rating: RED",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:58:35.221613+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Amber List (moderate evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:58:35.212974+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:57:59.465602+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Expert Review; to: Li 2018 (PMID: 30322850): \r\n- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).\r\n- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.\r\n- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.\r\n\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \r\nSources: Expert Review",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:57:24.081875+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIB1: Changed rating: AMBER",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:57:14.648142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MIB1 were set to 23314057; 30322850",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:56:42.438007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MIB1 as Amber List (moderate evidence)",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:56:42.427190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mib1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:56:11.847286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.; to: Comment when marking as ready: RED for LVNC/cardiomyopathy. Amber for congenital heart disease.",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:54:49.963106+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB18 as ready",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:54:49.948571+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb18 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:54:47.392787+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:54:09.065076+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB18 were set to ",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:53:38.025613+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:53:11.602540+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:50:40.938834+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB18 as ready",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:50:40.930009+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb18 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:50:20.361997+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:49:49.955680+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB18 were set to ",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:49:15.965388+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:48:35.657787+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:42:32.981578+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB18 as ready",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:42:32.967639+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb18 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:42:28.658898+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB18 as Green List (high evidence)",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:42:28.649736+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb18 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:41:58.932194+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB18 was added\ngene: ZBTB18 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB18 were set to 29573576\nPhenotypes for gene: ZBTB18 were set to Mental retardation, autosomal dominant 22, MIM# 612337\nReview for gene: ZBTB18 was set to GREEN\nAdded comment: Van der Schoot et al. (2018) reported 4 unrelated patients with MRD22 and summarized clinical information on 21 previously reported patients. All 25 patients had developmental delay, including 7 of 17 with microcephaly, 9 of 15 with corpus callosum abnormalities, 10 of 13 with dysmorphic facial features, and 4 of 17 with seizures. \nSources: Expert Review",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:40:41.574834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB18 as ready",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:40:41.563318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb18 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:40:37.964676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:39:47.343650+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZBTB18 were set to ",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:39:15.447183+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:38:33.725975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337, Intellectual disability, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:37:37.012424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB18 as ready",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2021-12-16T16:37:36.994563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb18 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB18",
"entity_type": "gene"
}
]
}