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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1074",
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"results": [
{
"created": "2021-12-20T18:20:32.274158+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS53.",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:20:22.956266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:19:29.578655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS53.",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:19:21.404585+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS53 as ready",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:19:21.394174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps53 has been classified as Green List (High Evidence).",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:19:16.332477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:18:50.307333+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS53 were set to ",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:18:16.656668+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:17:42.390359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple Moroccan Jewish families reported, segregating two founder variants.; to: Multiple Moroccan Jewish families reported, segregating two founder variants. ID is part of the phenotype.",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:17:27.739189+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:16:26.853202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:15:51.651396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS53.",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:15:02.591468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:14:45.857309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS53 were set to ",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:14:27.522545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:13:33.477962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-6 as ready",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:13:33.467740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-6 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:13:24.654852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:13:05.400214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-6 were set to ",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:12:47.830609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:12:24.940000+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-6 as ready",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:12:24.930419+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-6 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:12:21.570363+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:11:51.986902+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-6 were set to ",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:11:27.871614+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:10:37.752976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX2-6 were set to 24421281; 15649947",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:10:24.854235+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKX2-6 as Green List (high evidence)",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:10:24.833991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-6 has been classified as Green List (High Evidence).",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:10:12.544568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:10:08.442345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NKX2-6: Changed rating: GREEN",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:09:14.268335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT10B were set to ",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:08:23.484685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT10B were changed from to Split-hand/foot malformation 6, OMIM #601906; Tooth agenesis, selective, 8, OMIM #617073",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:08:04.132451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT10B were set to ",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:07:45.438399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT10B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:06:54.306303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10321",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:06:43.262325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WRAP53 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 to Dyskeratosis congenita, autosomal recessive 3, OMIM #613988",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:06:31.654229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WRAP53 were set to ",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:05:43.902525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YY1 were set to ",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:05:08.003737+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YY1: Changed publications: 28575647",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:04:39.590879+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YY1 as ready",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:04:39.581037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yy1 has been classified as Green List (High Evidence).",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:04:34.880414+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:04:02.432809+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YY1 were set to ",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:03:26.075775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:02:52.060815+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:02:10.109159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YY1 as ready",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:02:10.098349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yy1 has been classified as Green List (High Evidence).",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:02:02.983638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:01:44.157988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YY1 were set to ",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:01:19.177868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:00:24.475784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:00:24.466894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:00:19.519362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10318",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:00:07.843539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GM2A were changed from GM2-GANGLIOSIDOSIS TYPE AB to GM2-gangliosidosis, AB variant MIM#272750",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:59:54.269641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GM2A were set to ",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:59:37.312679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:57:59.827936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:57:59.816560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:57:51.905171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant MIM#272750",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:57:32.154041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GM2A were set to ",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:56:39.577640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:55:54.218151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: VPS53 as ready",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:55:54.207299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: vps53 has been classified as Green List (High Evidence).",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:55:35.639908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFRA1 were set to 33020172",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:55:05.458780+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:54:56.607290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFRA1 as Green List (high evidence)",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:54:56.597701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfra1 has been classified as Green List (High Evidence).",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:54:36.504999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GFRA1: Changed rating: GREEN; Changed publications: 33020172, 34737117",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:54:09.732403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GANAB as ready",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:54:09.722069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ganab has been classified as Red List (Low Evidence).",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:54:06.438142+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.165",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:52:00.698318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: VPS53 as ready",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:52:00.684541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: vps53 has been classified as Green List (High Evidence).",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:51:54.306263+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFRA1 as ready",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:51:54.296565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfra1 has been classified as Green List (High Evidence).",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:51:49.680319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFRA1 were set to 33020172",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:51:27.322549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:51:23.148443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFRA1 as Green List (high evidence)",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:51:23.137655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfra1 has been classified as Green List (High Evidence).",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:50:45.609010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA3 as ready",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:50:45.599302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:50:39.930044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA3 were set to ",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:50:25.393901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:50:13.062490+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA3 as Green List (high evidence)",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:50:13.041825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata3 has been classified as Green List (High Evidence).",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:49:22.663313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1542",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "edited their review of gene: NKX2-6: Added comment: Review updated - 3 unrelated families now reported\r\n\r\nPMID 15649947 (Heathcote et al 2005) - first reported biallelic variants NKX2-6 associated with type 1 truncus arteriosis in a large consanguineous family previously described by (Abushaban et al 2003 - 12574981) \r\n\r\nPMID 24421281 (Ta-Shma et al 2014) Subsequently reported, another consanguineous family with conotruncal defects (including VSD and TA) and homozygous nonsense NKX2-6 variants. One individual from that family was\r\nalso noted to have athymia\r\n\r\nPMID 32198970 (Ritter et al 2019) - Reported compound het variants in x2 siblings with truncus arteriosus (2nd sibling diagnosed antenatally) from non-consanguineous family \r\n\r\nAdditional studies of NKX2-6 identified a\r\n- heterozygous missense variant c.472A > C (p.Lys158Gln) that segregated with VSD (PMID 25380965 Wang et al 2015)\r\n- heterozygous missense variant c.525G > C (p.Gln175His) that segregated in a family with atrial fibrillation (PMID 25319568 Wang et al 2014)\r\n\r\nIncluded in PanelApp as biallelic inheritance but possibility of less severe phenotype with monoallelic inheritance possible - but one reported family only.; Changed publications: 24421281, 15649947, 32198970, 25380965, 25319568",
"entity_name": "NKX2-6",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:48:48.190135+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI1 as ready",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:48:48.178269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli1 has been classified as Green List (High Evidence).",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:48:42.744174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI1 were set to ",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:48:28.075384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLI1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:48:15.453637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI1 as Green List (high evidence)",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:48:15.442901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli1 has been classified as Green List (High Evidence).",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:46:54.077499+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI1 as ready",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:46:54.066473+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli1 has been classified as Green List (High Evidence).",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:45:36.894976+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI1 as Green List (high evidence)",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:45:36.885690+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli1 has been classified as Green List (High Evidence).",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:42:31.939396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI1 as ready",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:42:31.929623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli1 has been classified as Green List (High Evidence).",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:42:21.296587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI1 as Green List (high evidence)",
"entity_name": "GLI1",
"entity_type": "gene"
},
{
"created": "2021-12-20T17:42:21.285821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli1 has been classified as Green List (High Evidence).",
"entity_name": "GLI1",
"entity_type": "gene"
}
]
}