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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=895",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=893",
"results": [
{
"created": "2022-04-06T18:30:11.630156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINK5 were changed from to Netherton syndrome MIM# 256500",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:29:57.648065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINK5 were set to ",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:29:36.328586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:29:09.461310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:27:23.056072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPINK1 as ready",
"entity_name": "SPINK1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:27:23.046730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spink1 has been classified as Green List (High Evidence).",
"entity_name": "SPINK1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:27:01.676017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800",
"entity_name": "SPINK1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:25:31.543881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINK1 were set to ",
"entity_name": "SPINK1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:24:17.356699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPINK1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:23:54.211583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPINK1",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:18:36.601326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM# 607259 to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:18:14.024177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:17:52.531792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.\r\n\r\nWell established for bi-allelic variants.\r\n\r\nEnrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.; to: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.\r\n\r\nWell established for bi-allelic variants.\r\n\r\nEnrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.\r\n\r\nAssociation with OA: 7 families reported for AD OA, including 5 missense and 2 frameshift variants, PMID 32548275",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:17:23.297675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPG7: Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259, Autosomal dominant optic atrophy, MONDO:0020250; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:15:32.350240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG7 as ready",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:15:32.341095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Green List (High Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:14:30.363082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:14:08.732717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:13:47.213335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T18:13:28.027259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:15:26.296634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO4 as ready",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:15:26.287332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo4 has been classified as Green List (High Evidence).",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:15:17.960956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPO4 were changed from to Anonychia congenita MIM# 206800",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:14:56.682800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPO4 were set to ",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:14:36.055398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPO4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:14:00.466161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN4IP1 as ready",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:14:00.453054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Green List (High Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:13:49.016735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:13:22.471273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTN4IP1 were set to ",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:12:57.737990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:12:11.065367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX1 as ready",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:12:11.052836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:12:03.172950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Leukemia, acute myeloid, MIM# 601626",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:11:42.285558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUNX1 were set to ",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:09:43.868374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:08:59.770266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:08:59.751184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:08:50.633443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from to Coloboma of optic nerve - MIM# 120430; Coloboma, ocular - MIM#120200; Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:07:49.868068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX6 were set to ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:07:29.727789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:06:42.107071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX2 as ready",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:06:42.094998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax2 has been classified as Green List (High Evidence).",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:04:14.802595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352; Glomerulosclerosis, focal segmental, 7 - MIM#616002",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:03:51.598126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX2 were set to ",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:03:31.516742+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:02:45.298948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN15 as ready",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:02:45.285811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen15 has been classified as Green List (High Evidence).",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:02:37.334422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN15 were changed from to Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:02:14.996939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN15 were set to ",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:01:53.412127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:01:34.427156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:00:57.426440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB33B as ready",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:00:57.413046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab33b has been classified as Green List (High Evidence).",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:00:49.865839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB33B were changed from to Smith-McCort dysplasia 2 (MIM#615222)",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:00:30.147079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB33B were set to ",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-04-06T17:00:09.608255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:59:38.127908+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB28 as ready",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:59:38.114895+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab28 has been classified as Green List (High Evidence).",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:59:34.952214+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB28 were set to 30679166",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:58:50.999634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB28 as ready",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:58:50.983160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab28 has been classified as Green List (High Evidence).",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:58:42.899883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB28 were changed from to Cone-rod dystrophy 18 (MIM#615374)",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:58:23.711590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB28 were set to ",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:58:02.415941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:57:23.120212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAM16 as ready",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:57:23.110515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pam16 has been classified as Green List (High Evidence).",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:52:17.369583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:51:52.945440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAM16 were set to ",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:51:23.557155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:50:31.717714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PALLD as ready",
"entity_name": "PALLD",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:50:31.707073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: palld has been classified as Red List (Low Evidence).",
"entity_name": "PALLD",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:50:22.806018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PALLD as Red List (low evidence)",
"entity_name": "PALLD",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:50:22.790352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: palld has been classified as Red List (Low Evidence).",
"entity_name": "PALLD",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:47:06.927226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:43:44.704139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMPD3 as ready",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:43:44.694856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd3 has been classified as Red List (Low Evidence).",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:43:36.960361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMPD3 were changed from to [AMP deaminase deficiency, erythrocytic] MIM#612874",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:43:09.346088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMPD3 were set to ",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:42:48.437034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:42:22.276259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMPD3 as Red List (low evidence)",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:42:22.265013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd3 has been classified as Red List (Low Evidence).",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:42:04.339838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMPD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [AMP deaminase deficiency, erythrocytic] MIM#612874; Mode of inheritance: None",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:25:28.546842+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:24:52.780747+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3CG: Changed phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802, Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:24:32.049805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM#\t619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:24:06.876873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3CG: Changed phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802, Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:23:30.676353+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to Aortic aneurysm, familial thoracic 12, MIM# 619825",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:22:56.427457+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THSD4: Changed phenotypes: Aortic aneurysm, familial thoracic 12, MIM# 619825",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:22:43.227473+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THSD4 as ready",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:22:43.216443+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd4 has been classified as Green List (High Evidence).",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:22:40.420175+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to Aortic aneurysm, familial thoracic 12, MIM# 619825",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-04-06T16:22:04.436338+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THSD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 12, MIM# 619825; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THSD4",
"entity_type": "gene"
},
{
"created": "2022-04-06T15:36:20.915138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041604, 17914448, 18070203; Phenotypes: Anonychia congenita MIM# 206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:24:51.517947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267, 31077085; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2022-04-06T11:01:09.758117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508512, 11830488; Phenotypes: Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399, Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2022-04-05T17:50:02.968322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700164, 30986449, 29930474, 22171686; Phenotypes: ?Coloboma of optic nerve - MIM# 120430, ?Coloboma, ocular - MIM#120200, ?Morning glory disc anomaly - MIM#120430, Aniridia - MIM#106210, Anterior segment dysgenesis 5, multiple subtypes - MIM#604229, Cataract with late-onset corneal dystrophy - MIM#106210, Foveal hypoplasia 1- MIM#136520, Keratitis - MIM#148190, Optic nerve hypoplasia - MIM#165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-04-05T17:40:22.996135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352, Glomerulosclerosis, focal segmental, 7 - MIM#616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2022-04-05T14:50:04.110904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TSEN15: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874; Mode of inheritance: None",
"entity_name": "TSEN15",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:28:59.096625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22652534, 28127940, 23042644, 34284742; Phenotypes: Smith-McCort dysplasia 2 (MIM#615222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:14:32.844668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome MIM#203800",
"entity_name": "ALMS1",
"entity_type": "gene"
}
]
}