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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1333",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1331",
"results": [
{
"created": "2021-05-02T10:51:15.067281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ5 as ready",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:51:15.056756+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq5 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:51:12.179885+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:50:42.814704+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ5 were set to ",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:49:48.760260+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:48:46.795078+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:38:36.711927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ5 as ready",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:38:36.697393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq5 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:38:29.701673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:38:09.965650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ5 were set to ",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:34:32.116590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:34:13.116250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:27:53.925421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK9 as ready",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:27:53.916355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk9 has been classified as Green List (High Evidence).",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:27:36.883237+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNK9 as ready",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:27:36.872148+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnk9 has been classified as Green List (High Evidence).",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:27:33.086185+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:27:18.637730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:26:59.596862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK9 were set to ",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:26:39.920942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:26:19.557078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:26:10.015929+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNK9 were set to ",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:25:17.016085+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:24:40.551695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNK9: Changed phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:24:02.313663+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-02T10:09:02.810486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7451",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 18678320, 27151206; Phenotypes: Birk-Barel syndrome (MIM#612292); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:40:58.634041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATL1: Changed phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381, Spastic paraplegia 3A, MIM 182600, Hereditary spastic paraplegia, AR",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:40:34.865199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATL1 as ready",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:40:34.856098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atl1 has been classified as Green List (High Evidence).",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:40:26.730610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATL1 were changed from Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381 to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381; Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:39:49.526656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATL1 were changed from to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:39:30.970200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATL1 were set to ",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:39:06.045070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-05-01T07:38:47.052754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194679, 24604904, 22340599, 16401858, 16537571, 17657515, 28396731, 24473461, 26888483; Phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:29:45.870575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:29:45.860750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:29:39.028197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:29:21.874068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ2 were set to ",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:29:03.769070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:28:45.986590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:27:43.477082+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:27:43.463544+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:27:38.315087+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:27:09.551022+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ2 were set to ",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:26:30.233367+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:26:04.146353+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:10:57.081823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA6 as ready",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:10:57.070237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa6 has been classified as Green List (High Evidence).",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:10:35.794234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:09:59.171603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA6 were set to ",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:09:38.511409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:09:06.200607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:08:13.058557+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COA6 as ready",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:08:13.047316+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coa6 has been classified as Green List (High Evidence).",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:08:00.792490+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:06:35.206857+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COA6 were set to ",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:05:51.731590+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:05:26.563813+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COA6: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:04:16.248945+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COA6",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:00:09.373279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARS2 as ready",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:00:09.359236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T20:00:01.444815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:59:37.323344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARS2 were set to ",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:59:15.643946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:58:54.033768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672, MONDO:0014728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:08:34.730422+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARS2 were changed from Combined oxidative phosphorylation deficiency 27, MIM# 616672 to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:07:18.006356+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARS2 as ready",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:07:17.984956+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Green List (High Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:07:15.695681+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:06:45.512960+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARS2 were set to ",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:04:23.261214+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T19:03:51.377351+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-04-30T15:50:57.412801+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5C as ready",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T15:50:57.395860+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T15:50:42.627892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5C as ready",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T15:50:42.617276+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T14:21:02.190378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5C as ready",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T14:21:02.176842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T14:12:04.697441+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D2B as ready",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-04-30T14:12:04.685328+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d2b has been classified as Green List (High Evidence).",
"entity_name": "TBC1D2B",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:16:13.997180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7438",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Amber List (moderate evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:16:13.987879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7438",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:15:38.281577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7437",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: PPP2R5C was added\ngene: PPP2R5C was added to Mendeliome. Sources: Research\nMode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability\nPenetrance for gene: PPP2R5C were set to Complete\nReview for gene: PPP2R5C was set to AMBER\nAdded comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly \nSources: Research",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:13:01.842252+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3722",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Amber List (moderate evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:13:01.832520+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3722",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:11:50.070401+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:11:50.060286+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Green List (High Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:09:33.772799+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3721",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: PPP2R5C was added\ngene: PPP2R5C was added to Intellectual disability syndromic and non-syndromic. Sources: Research\nMode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability\nPenetrance for gene: PPP2R5C were set to Complete\nReview for gene: PPP2R5C was set to AMBER\nAdded comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly \nSources: Research",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:08:07.215183+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.71",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Amber List (moderate evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:08:07.206175+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.71",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T13:06:04.015064+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.70",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: PPP2R5C was added\ngene: PPP2R5C was added to Macrocephaly_Megalencephaly. Sources: Research\nMode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability\nPenetrance for gene: PPP2R5C were set to Complete\nReview for gene: PPP2R5C was set to AMBER\nAdded comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly \nSources: Research",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2021-04-30T12:15:43.257341+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-04-30T12:15:43.242551+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-04-30T12:15:38.295006+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-04-30T12:15:05.987396+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-04-30T12:14:33.950518+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is part of the phenotype of this multi-system syndromic condition. \nSources: Expert list; to: The association of adrenal and neurologic disease is similar to that in X-linked adrenoleukodystrophy, and neurological features are progressive.\r\nSources: Expert list",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2021-04-30T11:01:54.505509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLX4 as ready",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-04-30T11:01:54.492553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Green List (High Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-04-30T11:01:46.993056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951; MONDO:0013499",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-04-30T11:01:27.427613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLX4 were set to ",
"entity_name": "SLX4",
"entity_type": "gene"
}
]
}