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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=715",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=713",
"results": [
{
"created": "2022-10-13T16:22:22.427972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:20:58.844774+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCS1L as ready",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:20:58.834961+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Green List (High Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:19:56.095065+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:19:24.366433+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCS1L were set to 24172246; 17314340; 9545407",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:18:51.868872+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCS1L were set to ",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:18:51.610719+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:18:51.601628+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Red List (Low Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:18:21.328507+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.544",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:18:05.170913+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.543",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SCO2 as Red List (low evidence)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:18:05.157634+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.543",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Red List (Low Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:17:50.765115+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:15:09.314138+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:14:20.192180+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHB as ready",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:14:20.183656+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdhb has been classified as Green List (High Evidence).",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:14:14.763748+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:13:31.343078+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDHB were set to ",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:12:59.781422+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:12:28.070891+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, seizures are part of the phenotype.",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:11:34.864483+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCNN1B as ready",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:11:34.855001+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scnn1b has been classified as Green List (High Evidence).",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:10:26.044357+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:09:05.284940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCNN1A as ready",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:09:05.275126+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scnn1a has been classified as Green List (High Evidence).",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:08:59.717042+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, MIM#264350 to Pseudohypoaldosteronism, type I, MIM# 264350",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:08:32.070786+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:00:43.585524+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:00:43.576433+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T16:00:25.581817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27559564; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-10-13T13:26:20.584281+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-13T13:16:12.050146+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-13T13:16:12.041604+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-13T13:15:55.251438+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.349",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NPC1 were set to ",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-13T13:13:48.056921+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10480349, 17003072, 25497598, 33228797; Phenotypes: Niemann-Pick disease, type C1 MONDO:0009757, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-10-13T12:46:18.328550+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ITM2B as ready",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-10-13T12:46:18.320076+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itm2b has been classified as Green List (High Evidence).",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-10-13T12:44:41.825877+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ITM2B were changed from to Cerebral amyloid angiopathy MONDO:0005620",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-10-13T12:42:02.458892+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ITM2B were set to ",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-10-13T12:41:19.085808+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITM2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-10-13T12:37:52.186696+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10391242, 10781099, 20385796, 33814452; Phenotypes: Cerebral amyloid angiopathy MONDO:0005620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:58:13.384641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:52:31.580022+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:45:59.504950+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:27:06.302698+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:20:32.931393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:10:39.658329+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:07:44.708695+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.348",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: HARS: Changed publications: 32333447",
"entity_name": "HARS",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:19:47.871936+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:18:52.202253+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:18:24.723539+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:17:38.816736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEATR3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:16:56.722016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:16:33.362944+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:15:58.251550+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-13T08:15:14.682280+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEATR3",
"entity_type": "gene"
},
{
"created": "2022-10-12T15:03:30.964180+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C6.",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-10-12T15:03:07.285661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C6.",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-10-12T14:17:06.388673+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: C6.",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-10-12T14:16:57.501108+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C6 as ready",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-10-12T14:16:57.490205+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c6 has been classified as Green List (High Evidence).",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-10-12T14:16:48.387272+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:09:08.878313+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:09:08.868999+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:09:02.141812+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FH.",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:08:52.029852+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:06:53.492658+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBP1 as ready",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:06:53.482784+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp1 has been classified as Green List (High Evidence).",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:06:44.703483+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:02:41.328964+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:01:55.236112+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:01:36.698350+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:00:57.543349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:00:38.852774+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:00:27.252127+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:00:07.675530+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T13:00:07.659717+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:59:57.155973+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: FAH.",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:59:46.281167+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:58:19.063787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:58:01.808179+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:57:46.619852+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:56:01.837011+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:55:40.173704+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:55:21.729694+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:54:57.669860+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ETHE1.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:54:48.977435+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:54:48.964672+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:54:38.862494+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nOnset in infancy.; to: Well established gene-disease association.\r\n\r\nOnset in infancy. Typically high mortality.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-12T12:54:26.482602+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-11T21:03:47.691462+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T21:03:47.683455+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Green List (High Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T21:03:12.933282+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T21:02:39.323220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDHA were set to ",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:40:22.042590+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:39:42.913146+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:39:42.533392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:38:39.643652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:38:39.635170+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:38:32.529643+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:37:47.653045+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRX 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": "ATRX",
"entity_type": "gene"
}
]
}