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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1380",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1378",
"results": [
{
"created": "2021-03-19T13:00:43.375921+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SNX10 as ready",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:00:43.367740+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snx10 has been classified as Green List (High Evidence).",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:00:38.351762+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SNX10 as Green List (high evidence)",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:00:38.341804+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: snx10 has been classified as Green List (High Evidence).",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-03-19T13:00:02.144680+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNX10 was added\ngene: SNX10 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX10 were set to 22499339; 23123320; 30885997; 32048120; 32278070\nPhenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 MIM#615085\nReview for gene: SNX10 was set to GREEN\nAdded comment: >3 cases reported and supporting knock-in homozygous mouse model. Impaired osteoclast function is the cause of the condition. \nSources: Expert list",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:47:00.237302+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OSTM1 as ready",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:47:00.225558+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ostm1 has been classified as Green List (High Evidence).",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:46:54.552675+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: OSTM1 as Green List (high evidence)",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:46:54.545790+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ostm1 has been classified as Green List (High Evidence).",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:46:23.837165+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OSTM1 was added\ngene: OSTM1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSTM1 were set to 12627228; 15108279; 16813530; 23772242; 32048120\nPhenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 MIM#259720\nReview for gene: OSTM1 was set to GREEN\nAdded comment: >3 cases reported and a supporting null mouse model. The condition is caused by osteoclast impairment. \nSources: Expert list",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:34:47.422806+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:34:47.414981+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Green List (High Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:33:51.213315+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLCN7 as Green List (high evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:33:51.203253+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Green List (High Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-03-19T12:33:04.702149+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLCN7 were set to 11207362; 15231021; 17033731; 19507210; 32048120\nPhenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 MIM#611490\nReview for gene: CLCN7 was set to GREEN\nAdded comment: At least 4 unrelated cases reported, and a supporting mouse model. Impaired osteoclast (derived from myeloid/monocyte lineage) function is a feature of the condition. \nSources: Expert list",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:33:45.407521+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TCIRG1 as ready",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:33:45.398042+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:33:37.998099+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TCIRG1 as Green List (high evidence)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:33:37.988107+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:33:10.328869+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCIRG1 were set to 10888887; 31938717; 19507210; 32048120\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 MIM#259700\nReview for gene: TCIRG1 was set to GREEN\ngene: TCIRG1 was marked as current diagnostic\nAdded comment: >3 cases reported and supporting mouse model. Cases have been reported with immunodeficiency. \nSources: Expert list",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:28:24.985411+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLEKHM1 as ready",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:28:24.976862+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plekhm1 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T11:26:07.351836+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLEKHM1 was added\ngene: PLEKHM1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: PLEKHM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHM1 were set to 17404618; 32048120\nPhenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 MIM#611497\nReview for gene: PLEKHM1 was set to RED\nAdded comment: Currently only a single case reported with the recessive condition, which is is the only form reported in the IUIS 2019 PID update. \nSources: Expert list",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:50:32.022634+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNFRSF11A as ready",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:50:32.011990+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnfrsf11a has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:50:16.329295+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNFRSF11A as Green List (high evidence)",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:50:16.319401+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnfrsf11a has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:48:59.644183+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF11A were set to 18606301; 32048120\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 MIM#612301\nReview for gene: TNFRSF11A was set to GREEN\ngene: TNFRSF11A was marked as current diagnostic\nAdded comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production. \nSources: Expert list",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:34:41.475288+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CSF2RB as ready",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:34:41.465283+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: csf2rb has been classified as Green List (High Evidence).",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:34:23.616062+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:33:55.876807+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CSF2RB as Green List (high evidence)",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:33:55.868636+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: csf2rb has been classified as Green List (High Evidence).",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:32:58.405436+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSF2RB was added\ngene: CSF2RB was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSF2RB were set to 7568173; 21075760; 21205713; 25274301; 30846703\nPhenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370\nReview for gene: CSF2RB was set to GREEN\nAdded comment: At least 2 unrelated cases reported and multiple supporting mouse models. Condition includes impaired alveolar macrophages. \nSources: Expert list",
"entity_name": "CSF2RB",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:27:26.325575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH1L2 as ready",
"entity_name": "ALDH1L2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:27:26.307550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh1l2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH1L2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:27:13.888355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH1L2 as Red List (low evidence)",
"entity_name": "ALDH1L2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:27:13.877657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh1l2 has been classified as Red List (Low Evidence).",
"entity_name": "ALDH1L2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:26:01.328129+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RA as ready",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:26:01.314335+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Green List (High Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:20:01.993595+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from Roberts syndrome 268300; SC phocomelia syndrome 269000 to Roberts syndrome 268300; SC phocomelia syndrome 269000; Juberg-Hayward syndrome, MIM# 216100",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:19:22.875172+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to 19574259; 16380922",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:16:53.559476+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:14:24.004638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:14:23.993271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:14:15.838951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:13:55.927082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to ",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:13:35.382558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:13:16.923554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:10:55.200246+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:10:55.189491+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:10:45.994774+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; RBS, SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:10:35.555743+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to ",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:10:23.233960+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:05:08.077938+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CSF2RA as Green List (high evidence)",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:05:08.065643+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Green List (High Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-03-19T10:03:56.189976+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSF2RA was added\ngene: CSF2RA was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CSF2RA were set to 18955567; 18955570; 31326401; 28233860; 28212655; 24279752\nPhenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770\nReview for gene: CSF2RA was set to GREEN\nAdded comment: >3 unrelated families reported with impairment of alveolar macrophages, and supporting mouse models \nSources: Expert list",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:30:09.563025+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZAP70 as ready",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:30:09.552075+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Green List (High Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:30:03.148990+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZAP70 as Green List (high evidence)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:30:03.137526+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Green List (High Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:29:30.599120+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZAP70 was added\ngene: ZAP70 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZAP70 were set to 26783323; 32431715; 32048120\nPhenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006\nReview for gene: ZAP70 was set to GREEN\ngene: ZAP70 was marked as current diagnostic\nAdded comment: At least 7 cases have been reported with autoimmunity/immune dysregulation and biallelic variants \nSources: Expert list",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:10:58.999314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6772",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RNF113A were set to 25612912; 31793730",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:10:27.317090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6771",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNF113A as Green List (high evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:10:27.312096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6771",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Additional cases published",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:10:27.285625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6771",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Green List (High Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:07:33.083735+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RNF113A: Changed publications: 25612912, 31880405, 31793730",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-03-19T09:07:25.677632+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated families with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.; to: 5 families with 3 different truncating variants, with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2021-03-19T08:50:45.593295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6769",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: ALDH1L2 was added\ngene: ALDH1L2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALDH1L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH1L2 were set to PMID: 31341639; 33168096\nPhenotypes for gene: ALDH1L2 were set to pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks\nReview for gene: ALDH1L2 was set to RED\nAdded comment: Individual reported with bialleleic ALDH1L2 variants (non-canonical splice and a frameshift mutation), who also has a de novo hemizygous RPS6KA3 frameshift mutation. Authors state that not all features of the individual could be explained by the RPS6KA3 variant, and that consideration of Coffin-Lowry sysndrome was only made after identification of the RPS6KA3 variant. Therefore individual has there is a blended phenotype of Coffin–Lowry syndrome and Sjögren–Larsson syndrome. From functional studies authors propose that the ALDH1L2 loss induces mitochondrial dysfunction due to reduced NADPH and increased oxidative stress (PMID: 31341639). Knockout mouse model was viable and did not show an apparent phenotype, however metabolomic analysis showed vastly changed metabotypes in the liver and plasma in these mice suggesting channeling of fatty acids away from β-oxidation. Authors therefore postulate that the role of ALDH1L2 in the lipid metabolism explains why the loss of this enzyme is associated with neuro-cutaneous disease. \nSources: Literature",
"entity_name": "ALDH1L2",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:13:18.414500+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:13:18.406380+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:13:14.634695+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134 to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:12:54.932898+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP290 were changed from to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:12:24.327048+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:11:51.281118+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:11:19.951519+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16682973, 16682970, 17705300, 33370260, 32600475; Phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:05:14.131762+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYBPC3 as Red List (low evidence)",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:05:14.123572+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc3 has been classified as Red List (Low Evidence).",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:04:44.243343+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYBPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:02:15.553982+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC3 as ready",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:02:15.545614+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:02:09.691980+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM#615396",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:01:38.885346+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYBPC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:01:10.570968+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYBPC3 as Amber List (moderate evidence)",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T21:01:10.560700+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:56:43.146240+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.91",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:46:54.545916+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: FAM57B.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:46:34.415951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: FAM57B.",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:35:23.745677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM57B as ready",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:35:23.729420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam57b has been classified as Green List (High Evidence).",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:35:13.466855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM57B as Green List (high evidence)",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:35:13.458692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam57b has been classified as Green List (High Evidence).",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:34:55.220948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM57B was added\ngene: FAM57B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM57B were set to 33077892\nPhenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy\nReview for gene: FAM57B was set to GREEN\nAdded comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina. \nSources: Literature",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:33:23.751179+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM57B as ready",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T17:33:23.740583+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam57b has been classified as Green List (High Evidence).",
"entity_name": "FAM57B",
"entity_type": "gene"
},
{
"created": "2021-03-18T16:04:20.325531+11:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-18T16:00:29.864339+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-18T16:00:29.851349+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-18T16:00:23.152584+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Immunological abnormalities leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients \nSources: Other; to: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients \r\nSources: Other",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2021-03-18T15:59:52.790150+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
}
]
}