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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1766",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1764",
"results": [
{
"created": "2020-06-19T14:09:40.095383+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSF4 were set to ",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T14:09:10.620347+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSF4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:55:11.253534+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BSCL2 as Green List (high evidence)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:55:11.239819+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:54:38.683342+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BSCL2 were set to 16765570\nPhenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Neuropathy, distal hereditary motor, type VA MIM#600794\nReview for gene: BSCL2 was set to GREEN\nAdded comment: The HSP and distal HMN caused by this gene can be classified as a non-ALS MND, affecting both upper and lower motor neurons. \nSources: Expert list",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:41:40.046426+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATL1 as Green List (high evidence)",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:41:40.028949+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atl1 has been classified as Green List (High Evidence).",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:41:04.966069+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATL1 was added\ngene: ATL1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATL1 were set to 16765570\nPhenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant MIM#182600\nReview for gene: ATL1 was set to GREEN\nAdded comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. \nSources: Expert list",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:00:55.983541+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UBTF as ready",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:00:55.974118+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ubtf has been classified as Green List (High Evidence).",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:00:52.255782+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UBTF as Green List (high evidence)",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:00:52.242649+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ubtf has been classified as Green List (High Evidence).",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2020-06-19T13:00:43.897387+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UBTF was added\ngene: UBTF was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBTF were set to 28777933; 29300972\nPhenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672\nMode of pathogenicity for gene: UBTF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: UBTF was set to GREEN\nAdded comment: 7 out of 11 unrelated cases with a recurrent de novo gain of function missense variant (p.Glu210Lys) have dystonia as a feature of the condition. \nSources: Expert list",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:48:42.772782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FITM2 as ready",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:48:42.763644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Green List (High Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:48:17.996726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FITM2 as Green List (high evidence)",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:48:17.985589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Green List (High Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:48:00.453414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FITM2 was added\ngene: FITM2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness\nReview for gene: FITM2 was set to GREEN\nAdded comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Expert list",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:47:10.554279+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FITM2 as ready",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:47:10.541336+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Green List (High Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:46:50.193952+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FITM2 as Green List (high evidence)",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:46:50.184474+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.351",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Green List (High Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:46:08.216931+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.350",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FITM2 was added\ngene: FITM2 was added to Deafness. Sources: Literature\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness\nReview for gene: FITM2 was set to GREEN\nAdded comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Literature",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:45:09.693150+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Three unrelated cases with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Expert list; to: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. \r\nSources: Expert list",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:40:58.065567+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FITM2 as ready",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:40:58.044625+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Green List (High Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:40:54.463813+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FITM2 as Green List (high evidence)",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:40:54.453578+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fitm2 has been classified as Green List (High Evidence).",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:40:47.089972+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FITM2 was added\ngene: FITM2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness\nReview for gene: FITM2 was set to GREEN\nAdded comment: Three unrelated cases with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Expert list",
"entity_name": "FITM2",
"entity_type": "gene"
},
{
"created": "2020-06-19T12:38:00.042912+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.143",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31815953, 29243736, 26490182; Phenotypes: Cataract 5, multiple types, 116800.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HSF4",
"entity_type": "gene"
},
{
"created": "2020-06-18T21:12:28.918300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy to Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86\t618910",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-06-18T21:12:08.165321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DALRD3: Changed phenotypes: Epileptic encephalopathy, Epileptic encephalopathy, early infantile, 86 618910",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-06-18T21:11:49.917761+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy to Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86\t618910",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-06-18T21:11:15.748689+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DALRD3: Changed phenotypes: Epileptic encephalopathy, Epileptic encephalopathy, early infantile, 86 618910",
"entity_name": "DALRD3",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:40:01.422794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD1L as ready",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:40:01.411500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd1l has been classified as Red List (Low Evidence).",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:39:51.201374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD1L were changed from to CAKUT",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:39:16.664632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD1L were set to ",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:38:56.133955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:38:37.811874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD1L as Red List (low evidence)",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:38:37.802463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd1l has been classified as Red List (Low Evidence).",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:38:15.985591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CHD1L.",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:38:01.152718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: None; Publications: 22146311, 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:34:41.369855+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEXMIF as ready",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:34:41.357373+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nexmif has been classified as Green List (High Evidence).",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:34:38.448243+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98, MIM# 300912",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:34:09.395775+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEXMIF were set to ",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:33:39.128645+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:33:05.899729+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98, MIM# 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:31:50.096391+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEXMIF as ready",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:31:50.085396+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nexmif has been classified as Green List (High Evidence).",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:31:45.463491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98, MIM# 300912",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:31:08.518892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEXMIF were set to ",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:30:36.603884+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:29:59.631075+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:29:43.410158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEXMIF as ready",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:29:43.397446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nexmif has been classified as Green List (High Evidence).",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:28:15.739798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98 300912",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:27:53.468005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEXMIF were set to ",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:27:33.428595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:26:43.152633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:26:43.139204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Green List (High Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:26:35.335251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from to Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:26:15.317738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:20:51.465058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:20:51.454601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:20:42.474251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM6A were changed from to Kabuki syndrome 2, 300867",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:20:23.437141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM6A were set to ",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-06-18T20:20:01.788545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM6A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-06-18T19:12:15.144494+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPECC1L as ready",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T19:12:15.128667+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: specc1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T19:12:03.126481+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPECC1L as Amber List (moderate evidence)",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T19:12:03.112008+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: specc1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T19:10:45.963855+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPECC1L was added\ngene: SPECC1L was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPECC1L were set to 26111080; 30472488\nPhenotypes for gene: SPECC1L were set to Hypertelorism, Teebi type MIM#145420\nReview for gene: SPECC1L was set to AMBER\nAdded comment: Three unrelated cases reported with craniosynostosis as a feature of the condition. \nSources: Expert list",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:40:23.760812+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:40:23.746425+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:40:14.201439+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFT122 as Green List (high evidence)",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:40:14.192605+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:39:37.980839+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT122 were set to 26792575; 28370949; 29037998\nPhenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 MIM#218330\nReview for gene: IFT122 was set to GREEN\nAdded comment: Craniosynostosis has been reported as a prominent feature of the condition in greater than 10 cases. \nSources: Expert list",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:24:12.136519+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:24:12.122311+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:07:33.870651+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GLI3 as Green List (high evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:07:33.861645+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-06-18T18:07:04.377498+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLI3 were set to 20583172; 20570969; 21326280\nPhenotypes for gene: GLI3 were set to Metopic craniosynostosis; Greig cephalopolysyndactyly syndrome MIM#175700\nReview for gene: GLI3 was set to GREEN\nAdded comment: Metopic or sagittal synostosis has been reported as a feature of Greig cephalopolysyndactyly syndrome in at least 7 unrelated cases, and there is a supporting mouse model with craniosynostosis. \nSources: Expert list",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-06-18T17:08:25.214247+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-18T15:50:25.714635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:27302555, 24664873; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-06-18T15:30:46.600796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 5q14.3 deletion syndrome, 613443, Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-06-18T15:29:16.611397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:45:43.675014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: STAG3 as ready",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:45:43.665150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stag3 has been classified as Green List (High Evidence).",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:45:33.687810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: STAG3 as Green List (high evidence)",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:45:33.673422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stag3 has been classified as Green List (High Evidence).",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:45:11.089087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STAG3 was added\ngene: STAG3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903\nPhenotypes for gene: STAG3 were set to Premature ovarian failure 8 MIM#615723\nReview for gene: STAG3 was set to GREEN\nAdded comment: At least four unrelated families with ovarian failure and a supporting null mouse model. \nSources: Expert list",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:43:53.063890+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: STAG3 as ready",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:43:53.048162+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stag3 has been classified as Green List (High Evidence).",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:43:46.441335+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: STAG3 were changed from to Premature ovarian failure 8 MIM#615723",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:43:39.082950+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: STAG3 were set to ",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:43:26.308852+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24597867, 26059840, 31803224, 31363903; Phenotypes: Premature ovarian failure 8 MIM#615723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:35:07.811490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SOHLH1 as ready",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-06-18T09:35:07.802004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3109",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sohlh1 has been classified as Green List (High Evidence).",
"entity_name": "SOHLH1",
"entity_type": "gene"
}
]
}