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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1763",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1761",
"results": [
{
"created": "2020-06-22T20:04:37.924045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-22T17:51:16.715341+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: KLC2: Changed rating: GREEN",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-06-22T15:34:53.154737+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.15",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL4A2 were set to PMID: 25719457; 30315939\nPhenotypes for gene: COL4A2 were set to Brain small vessel disease 2\t614483\nPenetrance for gene: COL4A2 were set to Incomplete\nMode of pathogenicity for gene: COL4A2 was set to Other\nReview for gene: COL4A2 was set to RED\nAdded comment: OMIM reports - Variable severity - Incomplete penetrance\r\n\r\nPMID: 25719457 - 0/15 heterozygous carriers report any myopathy phenotype. Majority had porencephaly or periventricular leukoencephalopathy.\r\n\r\nPMID: 30315939 - two patients with schizencephaly and/or polymicrogyria. Authors specifically noted myopathy was not observed in any patient, one was reported to have normal CK levels.\r\n\r\nBoth LOF and dominant negative are suggested mechanisms for this gene. \nSources: Expert list",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-06-22T15:19:53.378848+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.15",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25719457, 21625620, 23225343; Phenotypes: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-06-22T14:23:53.545733+10:00",
"panel_name": "Muscular dystrophy",
"panel_id": 141,
"panel_version": "0.15",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANO5 were set to PMID: 20096397; 32399949\nPhenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, autosomal recessive 12\t611307\nPenetrance for gene: ANO5 were set to unknown\nReview for gene: ANO5 was set to GREEN\nAdded comment: PMID: 20096397 - 5 families (12 patients) with either proximal limb girdle muscular dystrophy (3/5) or distal miyoshi myopathy (2/5). No obvious genotype-phenotype correlation, homozygous PTCs reported to cause both conditions. Age of onset >30 years old.\r\n\r\nPMID: 32399949 - 3 patients with biallelic variants. All are carriers of the common c.191dupA variant with a missense in trans. 1/3 has limb girdle muscular dystrophy, all patients have onset >30 years old \nSources: Expert list",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-06-22T13:48:33.334973+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.68",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SQSTM1 was added\ngene: SQSTM1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SQSTM1 were set to PMID: 27545679\nPhenotypes for gene: SQSTM1 were set to Myopathy, distal, with rimmed vacuoles\t617158\nReview for gene: SQSTM1 was set to GREEN\nAdded comment: PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia. None noted to have myopathy. \nSources: Literature",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2020-06-22T12:05:40.783919+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.3",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16722579, 17924338; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 MIM# 611528, Naxos disease MIM# 601214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-06-22T11:16:47.840016+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.6",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: PNPLA2 was added\ngene: PNPLA2 was added to Limb Girdle Muscular Dystrophy. Sources: Literature\nMode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA2 were set to PMID: 32269696; 21544567\nPhenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy\t610717\nReview for gene: PNPLA2 was set to GREEN\nAdded comment: PMID: 32269696 - 1 patient with both upper and lower limb weakness. She had elevated CK levels, with onset >25 years old.\r\n\r\nPMID: 21544567 - 6 patients with distal muscle weakness, shoulder girdle weakness and elevated CK levels. Severe dystrophic features of the shoulder girdle noted in 3/3 patients analysed by whole body MRI. Proximal muscle weakness was generalised first, with lower limbs affected in the 3rd/4th decade of life. Earliest age of onset 29 years old, 5/6 patients had homozygous PTCs. \nSources: Literature",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-06-22T10:51:10.198013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3143",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PHOX2A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11600883, 18323871; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHOX2A",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:10:12.797500+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCAP as ready",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:10:12.787971+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:10:09.751132+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCAP were set to ",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:09:30.095738+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: None; Publications: 16352453, 15582318; Phenotypes: Cardiomyopathy, hypertrophic, 25, MIM# 607487; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:06:54.875834+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCAP were changed from to Cardiomyopathy, hypertrophic, 25, MIM#\t607487",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:06:26.455731+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:05:47.714150+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCAP as Red List (low evidence)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:05:47.704486+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcap has been classified as Red List (Low Evidence).",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:04:31.192033+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCL as ready",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:04:31.182560+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcl has been classified as Red List (Low Evidence).",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:04:06.109415+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VCL were changed from to Cardiomyopathy, hypertrophic, 15, MIM# 613255",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:03:37.151796+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCL were set to ",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:03:13.668732+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:02:50.597088+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VCL as Red List (low evidence)",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:02:50.585654+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcl has been classified as Red List (Low Evidence).",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T18:02:19.092272+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: 17097056; Phenotypes: Cardiomyopathy, hypertrophic, 15, MIM# 613255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:58:15.490114+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEXN as ready",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:58:15.476244+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nexn has been classified as Red List (Low Evidence).",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:58:12.437246+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEXN were changed from to Cardiomyopathy, hypertrophic, 20, MIM# 613876",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:57:45.796430+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEXN were set to ",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:57:10.654875+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEXN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:56:39.009583+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 20970104; Phenotypes: Cardiomyopathy, hypertrophic, 20, MIM# 613876; Mode of inheritance: None",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:53:40.607581+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEXN as Red List (low evidence)",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:53:40.596341+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nexn has been classified as Red List (Low Evidence).",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:52:51.512397+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYLK2 were set to 11733062; 24082139; 25825456; 20301725",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:51:45.754873+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYL3 as ready",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:51:45.745780+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myl3 has been classified as Green List (High Evidence).",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:51:42.455485+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM#\t608751",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:51:03.458884+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYL3 were set to ",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:50:35.677351+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:49:51.148566+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI3 as ready",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:49:51.139019+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3 has been classified as Green List (High Evidence).",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:49:41.702412+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, hypertrophic, 7, MIM#\t613690",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:49:20.894071+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI3 were set to 30681346",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:48:59.863384+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI3 were set to ",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:48:36.406888+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:47:53.873796+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPM1 were set to 31270709",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:47:03.265115+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYBPC3 were set to 20378854",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:43:23.596441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TANC2 were changed from Intellectual disability; autism; epilepsy; dysmorphism to Intellectual disability; autism; epilepsy; dysmorphism; Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#\t618906",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:42:59.312320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TANC2: Changed phenotypes: Intellectual disability, autism, epilepsy, dysmorphism, Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:42:35.084303+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TANC2 were changed from no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism to Intellectual disability; autism; epilepsy; dysmorphism; Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#\t618906",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:41:49.534320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TANC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906; Mode of inheritance: None",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:38:55.303979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss to Deafness-77, autosomal dominant (DFNA77), MIM#618915",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:38:20.468199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABCC1: Changed phenotypes: Deafness-77, autosomal dominant (DFNA77), MIM#618915",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:38:14.253763+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915 to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:37:47.578154+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss (PMID: 31273342) to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:36:54.683341+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABCC1: Changed rating: AMBER; Changed phenotypes: Deafness-77, autosomal dominant (DFNA77), MIM#618915",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:35:09.869060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SORD were changed from isolated hereditary neuropathy to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2020-06-21T17:34:46.670271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SORD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912; Mode of inheritance: None",
"entity_name": "SORD",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:46:45.801448+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:44:07.171302+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:42:07.477302+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:41:02.274149+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:37:31.145829+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:35:37.009069+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:32:26.082794+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:30:51.917067+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:23:37.943646+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYOM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOM1",
"entity_type": "gene"
},
{
"created": "2020-06-21T16:20:43.002036+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.67",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:55:20.596651+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-21T15:51:31.456049+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:51:31.447244+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:51:27.416936+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEH2A as Green List (high evidence)",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:51:27.404853+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:51:15.919682+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2A were set to 16845400; 23592335; 17846997\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM#\t610333\nReview for gene: RNASEH2A was set to GREEN\nAdded comment: Leukodystrophy is a common feature, onset is typically in infancy. \nSources: Expert list",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:48:29.383824+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:48:29.371548+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:48:25.334088+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEH2B as Green List (high evidence)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:48:25.324451+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:48:16.161485+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2B were set to 16845400\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM#\t610181\nReview for gene: RNASEH2B was set to GREEN\nAdded comment: Leukodystrophy is common in AGS in general, though basal ganglia calcification seems to predominate here. \nSources: Expert list",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:45:36.388118+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:45:36.379307+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:45:21.619770+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEH2C as Green List (high evidence)",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:45:21.610124+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:45:12.629954+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2C were set to 16845400; 23322642\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, MIM#\t610329\nReview for gene: RNASEH2C was set to GREEN\nAdded comment: Leukodystrophy is a prominent feature, onset is typically in infancy. \nSources: Expert list",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:39:35.019544+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated families in the original publication. \nSources: Expert list; to: 5 unrelated families in the original publication, onset in infancy.\r\nSources: Expert list",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:39:03.987706+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASET2 as ready",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:39:03.978680+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaset2 has been classified as Green List (High Evidence).",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:38:59.572811+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASET2 as Green List (high evidence)",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:38:59.560385+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaset2 has been classified as Green List (High Evidence).",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:38:51.508151+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASET2 was added\ngene: RNASET2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASET2 were set to 19525954\nPhenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM#\t612951\nReview for gene: RNASET2 was set to GREEN\nAdded comment: 5 unrelated families in the original publication. \nSources: Expert list",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:35:20.144297+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:35:20.131827+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:35:17.346193+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:35:09.984481+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAMHD1 as Green List (high evidence)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:35:09.975915+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:35:01.254783+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SAMHD1: Changed publications: 19525956; Changed phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:34:44.360197+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM#\t612952\nReview for gene: SAMHD1 was set to GREEN\nAdded comment: Leukodystrophy is a prominent feature, onset is variable but typically in infancy/childhood. \nSources: Expert list",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:29:11.562044+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:29:11.553219+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2020-06-21T15:29:06.989894+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC17A5 as Green List (high evidence)",
"entity_name": "SLC17A5",
"entity_type": "gene"
}
]
}