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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1199",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1197",
"results": [
{
"created": "2021-09-28T14:34:46.958119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:34:39.987678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3D were changed from to Immunodeficiency 19 MIM# 615617",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:34:22.597349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3D were set to ",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:33:57.796291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD3D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:33:26.946218+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3D as ready",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:33:26.935607+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:33:24.164135+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD3D were changed from to Immunodeficiency 19 MIM# 615617",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:32:59.316803+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD3D were set to ",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:32:34.656270+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD3D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:31:38.577329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP26 as ready",
"entity_name": "ARHGAP26",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:31:38.566534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap26 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGAP26",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:31:29.677421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGAP26 as Red List (low evidence)",
"entity_name": "ARHGAP26",
"entity_type": "gene"
},
{
"created": "2021-09-28T14:31:29.667939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap26 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGAP26",
"entity_type": "gene"
},
{
"created": "2021-09-28T13:08:33.995864+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1235",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32920378, 18028412; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:14:59.603824+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:14:59.593990+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:14:46.244531+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from to Cerebral Palsy; Epileptic encephalopathy 13 MIM# 614558; Cognitive impairment with or without cerebellar ataxia MIM# 614306",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:14:18.019772+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:13:54.894340+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:12:45.704612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEFTY2 as ready",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:12:45.700039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: No reports since 1999.",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:12:45.662545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lefty2 has been classified as Red List (Low Evidence).",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:12:34.183092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEFTY2 were changed from to Heterotaxy",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:11:20.032710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LEFTY2 were set to ",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:10:19.392246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LEFTY2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:09:44.547514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LEFTY2 as Red List (low evidence)",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T12:09:44.536168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lefty2 has been classified as Red List (Low Evidence).",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:57:01.240279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9256",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: 5546002, 28597365, 8490660; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T11:56:17.419089+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.28",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: 15546002, 28597365, 8490660; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:23:52.095451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9256",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14602880, 15546002, 21926461, 21883749; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:22:22.063210+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.28",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14602880, 15546002, 21926461, 21883749; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2021-09-28T10:18:17.354842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9256",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: ARHGAP26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ARHGAP26",
"entity_type": "gene"
},
{
"created": "2021-09-28T09:59:46.684924+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.162",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33528536, 32989326, 31904124; Phenotypes: Cerebral Palsy, Epileptic encephalopathy 13 MIM# 614558, Cognitive impairment with or without cerebellar ataxia MIM# 614306; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:45:28.534142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR to Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:44:52.324355+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR to Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:44:18.851677+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MPL: Changed phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#254450, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:43:30.121923+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPRC were changed from Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460 to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971",
"entity_name": "PTPRC",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:41:59.613664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPAS1 were changed from Familial erythrocytosis (MIM#4611783), AD to Familial erythrocytosis (MIM#611783), AD",
"entity_name": "EPAS1",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:40:54.671661+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#124000 to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:40:38.573587+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BCS1L: Changed phenotypes: GRACILE syndrome, MIM# 603358, Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:40:03.487150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000 to Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#112400",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:39:18.978720+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from GRACILE syndrome, MIM#\t603358; Mitochondrial complex III deficiency, nuclear type 1\t, MIM#124000 to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:38:38.612918+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BCS1L: Changed phenotypes: GRACILE syndrome, MIM# 603358, Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:38:23.754105+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BCS1L: Changed phenotypes: GRACILE syndrome, MIM# 603358, Mitochondrial complex III deficiency, nuclear type 1 , MIM#12400",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:37:27.446089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA1 were changed from Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 6168963; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250 to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:35:22.528239+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:35:22.518119+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:35:14.251243+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MECP2 as Green List (high evidence)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:35:14.241726+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:34:11.914779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAOB as ready",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:34:11.904141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maob has been classified as Red List (Low Evidence).",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:33:59.911334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAOB was added\ngene: MAOB was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MAOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAOB were set to 31700678\nPhenotypes for gene: MAOB were set to Cerebral palsy\nReview for gene: MAOB was set to RED\nAdded comment: Variants identified in 2 unrelated individuals with CP (with same variant also identified in unaffected monozygotic twin). \nSources: Expert Review",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:32:20.884470+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.161",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MFN2 were set to 16437557; 21715711; 34114234; 33528536\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087; Hereditary motor and sensory neuropathy VIA - 601152\nReview for gene: MFN2 was set to RED\nAdded comment: Most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Homozygous and compound heterozygous MFN2 mutations have been reported in early-onset CMT2, including patients diagnosed <12 months of age.\r\n\r\nx1 het VUS reported in a prematurely born child with unilateral spastic CP (34114234)\r\nx1 paternally inherited pathogenic variant in MFN2 reported in 1 patient in CP cohort (33528536) \nSources: Literature",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:32:14.804703+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAOB as ready",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:32:14.795369+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maob has been classified as Red List (Low Evidence).",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:32:11.975840+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAOB were changed from to Cerebral palsy",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:31:46.769577+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAOB as Red List (low evidence)",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:31:46.760387+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maob has been classified as Red List (Low Evidence).",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:51.887068+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2B as ready",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:51.875417+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Red List (Low Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:48.345311+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2B as Red List (low evidence)",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:48.334901+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Red List (Low Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:08.168196+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:08.157523+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:00.638052+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2A as Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:30:00.626355+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:29:15.911206+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:29:15.901364+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:28:58.499232+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Epilepsy; Intellectual Disability; microcephaly; Spasticity; hypothyroidism to Epilepsy; Intellectual Disability; microcephaly; Spasticity; hypothyroidism; Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:28:32.792707+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to 23246292; 32279304; 26919706",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:27:37.859453+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM5C as Green List (high evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:27:37.850065+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:27:00.262723+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; 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": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:25:21.038780+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B2 as ready",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:25:21.029113+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:25:03.864046+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V1B2 as Green List (high evidence)",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:25:03.852086+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:24:34.212110+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32873933; Phenotypes: Epileptic encephalopathy, Intellectual Disability, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:19:12.539378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0C as ready",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:19:12.528531+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:19:07.517609+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Amber List (moderate evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:19:07.508632+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:18:33.204376+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0C was added\ngene: ATP6V0C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nSV/CNV tags were added to gene: ATP6V0C.\nMode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0C were set to 33190975; 33090716\nPhenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly\nReview for gene: ATP6V0C was set to AMBER\nAdded comment: 9 individuals reported with deletions and ID/seizures/microcephaly, minimum overlapping region implicates ATP6V0C as the causative gene. Single case report of de novo SNV and ID/seizures. \nSources: Literature",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:16:58.063554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0C as ready",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:16:58.053848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:16:46.291602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Amber List (moderate evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:16:46.280145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:16:28.548757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ATP6V0C.",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:16:18.304749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0C was added\ngene: ATP6V0C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0C were set to 33190975; 33090716\nPhenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly\nReview for gene: ATP6V0C was set to AMBER\nAdded comment: 9 individuals reported with deletions and ID/seizures/microcephaly, minimum overlapping region implicates ATP6V0C as the causative gene. Single case report of de novo SNV and ID/seizures. \nSources: Literature",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:15:35.066778+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0C as ready",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:15:35.057636+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:15:12.146118+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Amber List (moderate evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:15:12.136944+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:13:16.786655+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ATP6V0C.",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T17:13:08.119154+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2021-09-27T16:23:00.301164+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.157",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to Cerebral Palsy. Sources: Expert list,Literature\nMode of inheritance for gene: MECP2 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: MECP2 were set to 30542205; 33528536\nPhenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe - 300673; Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260; Intellectual developmental disorder, X-linked, syndromic 13 - 300055; Rett syndrome - 312750\nReview for gene: MECP2 was set to GREEN\nAdded comment: Pathogenic/likely pathogenic variants reported in 9 unrelated patients with CP \nSources: Expert list, Literature",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2021-09-27T16:02:19.492426+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.157",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MAOB was added\ngene: MAOB was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MAOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAOB were set to 31700678\nReview for gene: MAOB was set to RED\nAdded comment: Identified in 2 unrelated individuals with CP (with same variant also identified in unaffected monozygotic twin) in a gene not currently known to be associated disease. \nSources: Literature",
"entity_name": "MAOB",
"entity_type": "gene"
},
{
"created": "2021-09-27T15:31:32.824189+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.157",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KMT2B was added\ngene: KMT2B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2B were set to 29697234\nPhenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset - #617284\nReview for gene: KMT2B was set to RED\nAdded comment: Progressive early-onset movement disorder (mean age 7 years). Variants not previously reported in patients with CP. \nSources: Literature",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2021-09-27T15:22:28.954197+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.157",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Cerebral Palsy. Sources: Expert list,Literature\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2A were set to 33528536\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome - #605130\nReview for gene: KMT2A was set to GREEN\nAdded comment: Pathogenic/likely pathogenic variants identified in 5 unrelated patients with CP (Moreno-de-Luca et al 2021). \nSources: Expert list, Literature",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2021-09-27T15:18:42.305669+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1230",
"user_name": "Kavitha Kothur",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KDM5C 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: KDM5C were set to 23246292; 32279304; 26919706\nPhenotypes for gene: KDM5C were set to Epilepsy; Intellectual Disability; microcephaly; Spasticity; hypothyroidism",
"entity_name": "KDM5C",
"entity_type": "gene"
}
]
}