HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=783",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=781",
"results": [
{
"created": "2022-08-11T16:58:30.557355+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card9 has been classified as Red List (Low Evidence).",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:58:27.182539+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARD9 were changed from Candidiasis, familial, 2, autosomal recessive, 212050 (3) to Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:58:14.339169+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARD9 were set to ",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:58:04.755893+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CARD9 as Red List (low evidence)",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:58:04.740081+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card9 has been classified as Red List (Low Evidence).",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:57:53.499557+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: CARD9.",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:57:44.239564+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARD9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:54:13.118183+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4874",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846, 28191890, 35904126; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TAF4",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:52:14.580085+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: C8B as ready",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:52:14.570415+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: c8b has been classified as Red List (Low Evidence).",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:52:08.529726+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: C8B as Red List (low evidence)",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:52:08.525779+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: susceptibility to infection - not suitable for reproductive screening panel",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:52:08.497774+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.106",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: c8b has been classified as Red List (Low Evidence).",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:51:31.672247+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.105",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: C8B were changed from C8 deficiency, type II, 613789 (3) to C8 deficiency, type II (MIM#613789)",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:51:13.000560+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.104",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: C8B were set to ",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:50:28.507594+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C7 as ready",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:50:28.473711+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c7 has been classified as Red List (Low Evidence).",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:50:21.586605+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C7 were set to ",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:50:08.916527+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C7 as Red List (low evidence)",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:50:08.903755+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c7 has been classified as Red List (Low Evidence).",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:57.137981+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C6 as ready",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:57.124407+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c6 has been classified as Red List (Low Evidence).",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:53.746867+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C6 were set to ",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:41.219274+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C6 as Red List (low evidence)",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:41.207073+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c6 has been classified as Red List (Low Evidence).",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:26.253770+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: C6.",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:16.036023+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:12.916933+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: C7.",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:49:03.363028+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:45:29.134679+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: BGN.",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:44:19.016460+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BGN as ready",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:44:19.004038+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bgn has been classified as Green List (High Evidence).",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:44:10.645164+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 (3), X-linked to Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:43:59.339979+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BGN were set to ",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:43:44.121199+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:39:14.144314+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:39:14.126029+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:39:02.382461+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP13A2 were set to ",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:38:52.293692+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, 617225 (3) to Kufor-Rakeb syndrome (MIM#606693)",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:38:38.889593+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ATP13A2.",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-08-11T16:38:27.964052+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:28:24.421402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN5 were changed from Sacral agenesis; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related; Sacral agenesis; congenital anomalies",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:27:55.466625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN5 were set to 32732226; 28007035",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:27:33.992130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:27:16.801133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN5 as Green List (high evidence)",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:27:16.791576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn5 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:26:06.762970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Identified as a candidate gene in a sacral agenesis cohort.\r\n\r\nPMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. \nSources: Literature; to: Bi-allelic variants: Identified as a candidate gene in a sacral agenesis cohort.\r\n\r\nPMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. \r\nSources: Literature",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:25:49.423380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTBN5: Added comment: Monoallelic variants:\r\n- Four probands from unrelated families (1x Pakistani and 3x Italian) with de novo heterozygous SPTBN5 variants\r\n- 3x missense variants and 1x LoF variant were reported\r\n- Phenotypes include intellectual disability (mild to severe), aggressive tendencies and variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux; Changed rating: GREEN; Changed publications: 35782384, 32732226, 28007035; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related, Sacral agenesis, congenital anomalies; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:23:18.897063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN5 as ready",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:23:18.883881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn5 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:23:10.850909+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN5 as Green List (high evidence)",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-11T07:23:10.839279+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn5 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN5",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:49:08.873356+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: THSD4.",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:48:45.159331+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:48:01.547625+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:48:01.533385+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:47:58.597851+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2 , MIM#610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:47:30.043151+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFBR2 were set to ",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:46:14.761160+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:45:51.308434+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: TGFBR2.",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:45:39.979085+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2 , MIM#610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:44:15.243387+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:44:15.232578+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:44:09.788545+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:43:37.172628+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFBR1 were set to ",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:43:09.986662+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:42:45.428662+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: TGFBR1.",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T17:42:33.731313+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:15:54.356534+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD3 were set to 21217753; 30661052",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:15:10.701622+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: SMAD3.",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:14:26.809948+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK as ready",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:14:26.796964+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk has been classified as Green List (High Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:14:23.836915+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM#613780; Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:13:42.602291+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYLK were set to ",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:13:12.717633+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYLK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:12:31.803925+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: MYLK.",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:12:18.435107+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYLK: Changed publications: 28602422",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T15:12:04.231251+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYLK: Added comment: Amber for bi-allelic variants and gastrointestinal neuromuscular disease:\r\nPMID: 28602422;\r\n- 3 affecteds from 2 consanguineous families. each family is homozygous for 1x fs and 1x splice (abnormal splicing proven). \r\n- IHC of 1 affected showed no protein expression in intestine and bladder\r\n- For both families, no cardiac problems were reported for the carrier parents.; Changed phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780, Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:50:47.623372+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH11 as ready",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:50:47.612335+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh11 has been classified as Green List (High Evidence).",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:48:52.381666+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: MYH11.",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:48:42.649964+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH11 were changed from to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351; Aortic aneurysm, familial thoracic 4, MIM# 132900",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:46:01.601335+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH11 were set to ",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:45:24.770507+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:44:53.107793+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351, Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:29:22.220981+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: HCN4.",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:28:45.489116+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCN4 as ready",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:28:45.475357+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn4 has been classified as Green List (High Evidence).",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:28:42.514322+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome 2, MIM# 163800; Aortopathy",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:28:22.527314+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN4 were set to ",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:27:51.028734+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:27:23.233979+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12750403, 15123648, 16407510, 17646576, 25145518; Phenotypes: Sick sinus syndrome 2, MIM# 163800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:25:12.320373+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:25:12.312823+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:24:59.508674+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Acromicric dysplasia (102370); Ectopia lentis, familial (129600); Geleophysic dysplasia 2 (614185); Marfan lipodystrophy syndrome (616914); Marfan syndrome (154700); MASS syndrome (604308); Stiff skin syndrome (184900); Weill-Marchesani syndrome 2, dominant (608328)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:24:28.372735+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN1 were set to ",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:24:03.309231+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:23:38.071290+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag cardiac tag was added to gene: FBN1.",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:22:57.363382+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-08-10T14:22:57.354779+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
}
]
}