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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1146",
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"results": [
{
"created": "2021-11-04T07:38:54.979743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG12: Changed rating: GREEN",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:37:14.838281+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:36:40.290226+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG1 were set to ",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:36:11.885105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:35:44.903695+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:34:44.340682+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG1 as ready",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:34:44.329619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg1 has been classified as Green List (High Evidence).",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:34:40.960899+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:34:12.237531+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG1 were set to ",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:33:43.789000+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:33:05.288548+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:32:11.889595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG1 as ready",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:32:11.879637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg1 has been classified as Green List (High Evidence).",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:32:02.293400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:31:41.785717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG1 were set to ",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:31:24.489289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:31:07.259740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:29:23.986280+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG1 as ready",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:29:23.974266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg1 has been classified as Green List (High Evidence).",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:29:20.382709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG1 were changed from ALG1-CDG to Congenital disorder of glycosylation, type Ik, MIM# 608540",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:29:09.663520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG1 were set to ",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:28:55.773639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:23:58.632248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:23:58.622949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:23:54.233353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 to Aicardi-Goutieres syndrome 6, MIM# 615010",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:23:38.523339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAR as Red List (low evidence)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:23:38.514190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Red List (Low Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:23:26.889968+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:20:56.515981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOA as ready",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:20:56.506073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldoa has been classified as Red List (Low Evidence).",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:20:52.792632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOA were changed from GLYCOGEN STORAGE DISEASE XII to Glycogen storage disease XII, MIM#611881",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:20:38.477696+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDOA as Red List (low evidence)",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:20:38.468352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldoa has been classified as Red List (Low Evidence).",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:20:25.689087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Only some patients have been reported to have developmental delay; some of these reports pre-date molecular characterisation of this disorder and therefore a firm link with ID is difficult to establish.; to: Typically presents with haemolytic anaemia post-natally.",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:19:44.310939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALDOA: Changed rating: RED",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:17:57.771440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:17:57.761771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:17:53.878884+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH7A1 were changed from PYRIDOXINE-DEPENDENT EPILEPSY to Epilepsy, pyridoxine-dependent, MIM# 266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:17:40.688178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH7A1 as Red List (low evidence)",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:17:40.677332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:17:29.511427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:14:43.891965+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH1A3 as ready",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:14:43.879962+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh1a3 has been classified as Green List (High Evidence).",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:14:40.277473+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH1A3 were changed from ANOPHTHALMIA/MICROPHTHALMIA to Microphthalmia, isolated 8, MIM# 615113",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:14:25.937636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH1A3 were set to ",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:13:01.110652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:13:01.100180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:12:57.279012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:12:43.645876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH3A2 were set to ",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:12:30.344166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Red List (low evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:12:30.330044+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:12:11.393677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ALDH3A2: Presentation is typically post-natal with ichthyosis and developmental delay, no significant association with multiple congenital anomalies.",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:11:33.465706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALDH3A2: Changed rating: RED",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:08:33.134112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMCHD1 as ready",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:08:33.121914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smchd1 has been classified as Green List (High Evidence).",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:08:29.426757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMCHD1 were changed from Isolated Arhinia/Bosma Arhinia syndrome to Bosma arhinia microphthalmia syndrome (MIM#603457)",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2021-11-04T07:08:17.074865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMCHD1 were set to ",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2021-11-04T04:19:11.840639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: NUP85: Rating: ; Mode of pathogenicity: None; Publications: 34170319; Phenotypes: intellectual disability, Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2021-11-04T01:16:54.078923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: GNB2: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2021-11-04T01:14:17.526281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: None",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:05:16.077756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUB as ready",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:05:16.067062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tub has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:05:04.747650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:02:31.888867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUB were set to ",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:02:13.269960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:01:54.142486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUB as Amber List (moderate evidence)",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:01:54.133055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tub has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:01:35.772602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:00:37.936024+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUB as ready",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:00:37.926525+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tub has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:00:25.707832+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:00:16.643237+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUB were set to ",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:00:06.855274+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUB as Amber List (moderate evidence)",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T17:00:06.831565+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tub has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:59:51.833659+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:58:49.553644+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUB as ready",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:58:49.537509+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tub has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:58:47.485350+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, OMIM:616188 to Retinal dystrophy and obesity, MIM# 616188",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:58:20.284970+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:56:04.069376+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SH2B1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-11-03T16:55:12.557310+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHIP as ready",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:55:12.547790+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Green List (High Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:55:10.607789+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:54:52.307648+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHIP as Green List (high evidence)",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:54:52.297309+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Green List (High Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:53:18.469978+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder; obesity",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:53:07.176491+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM2L1 as ready",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:53:07.166153+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:52:58.443431+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PGM2L1 as Green List (high evidence)",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:52:58.432587+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:51:41.292887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KSR2 as ready",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:51:41.278404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ksr2 has been classified as Red List (Low Evidence).",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:51:31.322956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KSR2 was added\ngene: KSR2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KSR2 was set to Other\nPublications for gene: KSR2 were set to 29273807; 24209692\nPhenotypes for gene: KSR2 were set to Obesity\nReview for gene: KSR2 was set to RED\nAdded comment: PMID: 24209692 Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. PMID: 29273807 GWAS identified KSR2 (13 genes studied) implicated in extreme obesity. \nSources: Expert Review",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:59.760736+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KSR2 as ready",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:59.750016+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ksr2 has been classified as Red List (Low Evidence).",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:53.494095+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KSR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:33.512670+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KSR2 as Red List (low evidence)",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:33.502895+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ksr2 has been classified as Red List (Low Evidence).",
"entity_name": "KSR2",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:02.383692+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:48:02.368856+11:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Amber List (Moderate Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
}
]
}