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{
"count": 220440,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1524",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1522",
"results": [
{
"created": "2020-10-25T21:55:38.577334+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:55:09.884613+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31344879; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:51:58.600765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE3A.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:51:34.472114+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:51:12.356938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:50:45.883104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome, MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:49:55.883105+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE3A.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:49:48.921276+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:49:47.822997+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE3A.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:49:13.127914+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE3A: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:49:10.316329+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from Angelman syndrome, MIM#105830 to Angelman syndrome, MIM#105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:48:51.720942+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:48:25.122165+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:47:54.250606+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome, MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:36:10.498349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:36:10.487567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Green List (High Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:36:01.988483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNE were changed from to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:35:45.229597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNE were set to ",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:35:28.439875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:35:09.855514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755487, 8957026, 11030414, 12417530, 32727330, 32070632, 31773638; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:34:59.139398+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:34:59.131314+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrne has been classified as Green List (High Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:34:13.737867+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNE were set to ",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:34:00.928609+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHRNE: Changed phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:33:46.613067+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755487, 8957026, 11030414, 12417530, 32727330, 32070632, 31773638; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:08:02.119891+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:08:02.107304+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:07:58.890294+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:07:44.445023+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRND were set to ",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:07:31.409971+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHRND: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:07:23.980141+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 16916845, 11435464, 12499478, 18398509, 11782989; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:03:07.309383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:03:07.296966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Green List (High Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:03:00.539961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:02:44.362318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLQ were set to ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:02:26.632974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:02:09.076059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:01:16.202453+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:01:16.183276+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Green List (High Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:01:13.791260+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency to Myasthenic syndrome, congenital, 5, MIM# 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:01:02.472134+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLQ were set to ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T21:00:51.452799+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:57:40.673473+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNG as ready",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:57:40.662593+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrng has been classified as Green List (High Evidence).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:57:37.455942+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNG were changed from fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient to Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:57:21.385615+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNG were set to ",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:57:07.516632+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22167768; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:53:14.393396+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA4 as ready",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:53:14.379507+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:53:12.148090+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:53:02.744949+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA4 were set to 23746447, 29636225",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:52:28.178883+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Red List (low evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:52:28.167493+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:52:03.711390+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:50:10.211825+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome; Complex IV deficiency",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:49:51.102193+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:49:15.252011+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA4: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065, Leigh syndrome, Complex IV deficiency",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:48:53.384232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome; Complex IV deficiency",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:48:28.344011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA4: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065, Leigh syndrome, Complex IV deficiency",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:47:53.721568+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA4: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065, Leigh syndrome, Complex IV deficiency",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:45:59.058138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX5A were changed from pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:45:26.967359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX5A: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064, pulmonary arterial hypertension, lactic acidemia, failure to thrive, isolated complex IV deficiency",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:45:04.283062+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX5A were changed from pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:44:27.930053+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX5A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX5A",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:43:24.544499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PET117 were changed from Developmental delay; Regression; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay; Regression; Complex IV deficiency",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:43:04.244038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PET117: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063, Developmental delay, Regression, Complex IV deficiency",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:42:47.327277+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PET117 were changed from Developmental delay to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:42:12.650834+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PET117: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:41:18.570333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX6A2 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:40:55.336726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX6A2: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:40:25.593397+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX6A2 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:39:52.587895+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX6A2: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062",
"entity_name": "COX6A2",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:39:19.683175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:39:19.671482+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:39:14.884023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:49.583257+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:49.571867+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:45.437525+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOPT1 as Green List (high evidence)",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:45.414312+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:26.454963+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOPT1 as Green List (high evidence)",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:26.447493+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:38:16.752697+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:37:30.387244+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APOPT1 was added\ngene: APOPT1 was added to Regression. Sources: Expert list\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APOPT1 were set to 25175347\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061\nReview for gene: APOPT1 was set to GREEN\nAdded comment: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time. \nSources: Expert list",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:37:02.720355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to ",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:36:17.101337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:35:41.525213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:55.269707+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:55.261854+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:52.584943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:52.573542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:49.093723+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:45.248773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:25.732852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to ",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:20.635259+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to 25175347",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:34:00.096547+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to 25175347]",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:33:43.637456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:33:40.588738+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to 25175347]",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:33:13.605214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347]; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:33:05.043567+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to ",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2020-10-25T20:32:46.035846+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOPT1",
"entity_type": "gene"
}
]
}