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{
"count": 220504,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1554",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1552",
"results": [
{
"created": "2020-10-05T20:48:09.781373+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to 20170897",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:47:19.999618+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITCH: Changed publications: 20170897, 32367404",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:41:52.196445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NUAK2: no OMIM# yet",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:41:39.342677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUAK2: Changed phenotypes: Anencephaly",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:41:22.717579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUAK2 were changed from ANENCEPHALY (OMIM#206500) to Anencephaly",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:40:28.933736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUAK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:40:11.919688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:35:12.887851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOLGA3 were set to PMID: 23495255",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:34:50.719919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOLGA3: Rating: RED; Mode of pathogenicity: None; Publications: 32367404; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:34:31.482292+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GOLGA3 were set to PMID: 23495255",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:33:05.780952+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOLGA3 as ready",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:33:05.768865+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga3 has been classified as Red List (Low Evidence).",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:32:04.417962+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOLGA3 as Red List (low evidence)",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:32:04.409484+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga3 has been classified as Red List (Low Evidence).",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:44:11.740300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANGPT2 were set to https://stm.sciencemag.org/content/12/560/eaax8013",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:43:53.527341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANGPT2: Changed publications: 32908006",
"entity_name": "ANGPT2",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:36:02.854145+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S1 as ready",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:36:02.829539+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:35:41.174006+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1S1 as Amber List (moderate evidence)",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:35:41.163820+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:35:14.619194+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:34:59.193965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S1 as ready",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:34:59.178698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s1 has been classified as Green List (High Evidence).",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:34:52.388521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome 609313; non-syndromic congenital intestinal failure",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:34:30.813421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S1 were set to ",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:34:17.420161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:33:54.574729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MEDNIK syndrome 609313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T17:30:10.620181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4793",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:NOTCH3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-05T17:29:47.630134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4792",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ALS2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-05T16:13:49.230419+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.9",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome\r\n- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease\r\n\r\n- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense muta \nSources: Literature; to: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome\r\n- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease\r\n\r\n- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense muta \r\nSources: Literature",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:13:22.993306+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.9",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: AP1S1 was added\ngene: AP1S1 was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1S1 were set to PMID: 32306098\nPhenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure\nAdded comment: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome\r\n- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease\r\n\r\n- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense muta \nSources: Literature",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:12:49.939873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome\r\n- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease\r\n\r\n- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense mutants; to: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome\r\n- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease\r\n\r\n- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense mutants",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:10:44.014006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense mutants; to: - Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome\r\n- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease\r\n\r\n- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant\r\n- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense mutants",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:01:23.615669+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: AKNA as ready",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:01:23.607762+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: akna has been classified as Red List (Low Evidence).",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:01:16.481558+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: AKNA as Red List (low evidence)",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:01:16.471266+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.128",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: akna has been classified as Red List (Low Evidence).",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:47.317715+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.127",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOLGA3 was added\ngene: GOLGA3 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: GOLGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA3 were set to PMID: 23495255\nPhenotypes for gene: GOLGA3 were set to Primary ciliary dyskinesia\nReview for gene: GOLGA3 was set to RED\nAdded comment: https://link.springer.com/article/10.1007/s00439-020-02170-2\r\nTwo siblings with a homozygous missense and PCD\r\n\r\nPMID: 23495255; null mice have failed spermatogenesis \nSources: Literature",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:33.580834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: AKNA as ready",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:33.571104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: akna has been classified as Red List (Low Evidence).",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:31.402852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOLGA3 as ready",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:31.390637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga3 has been classified as Red List (Low Evidence).",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:20.682308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GOLGA3 as Red List (low evidence)",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:20.674044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: golga3 has been classified as Red List (Low Evidence).",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:09.288012+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4790",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: AKNA as Red List (low evidence)",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T16:00:09.277055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4790",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: akna has been classified as Red List (Low Evidence).",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:54.803416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and in mouse it induced hair cell apoptosis. \r\nSources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the hypomorphic thoc1 in mouse induced hair cell apoptosis.\r\nSources: Literature",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:38.643028+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.587",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the and the hypomorphic thoc1 in mouse induced hair cell apoptosis. \r\nSources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the hypomorphic thoc1 in mouse induced hair cell apoptosis. \r\nSources: Literature",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:36.735821+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC1 as ready",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:36.725452+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:35.129739+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:35.120842+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hexb has been classified as Green List (High Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:29.924489+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THOC1 as Amber List (moderate evidence)",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:29.912670+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:29.676178+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HEXB as Green List (high evidence)",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:29.667882+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hexb has been classified as Green List (High Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:16.662191+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.586",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and in mouse it induced hair cell apoptosis. \nSources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the and the hypomorphic thoc1 in mouse induced hair cell apoptosis. \r\nSources: Literature",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:59:00.828143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: GOLGA3 was added\ngene: GOLGA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GOLGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GOLGA3 were set to PMID: 23495255\nPhenotypes for gene: GOLGA3 were set to Primary ciliary dyskinesia\nReview for gene: GOLGA3 was set to RED\nAdded comment: https://link.springer.com/article/10.1007/s00439-020-02170-2\r\nTwo siblings with a homozygous missense and PCD\r\n\r\nPMID: 23495255; null mice have failed spermatogenesis \nSources: Literature",
"entity_name": "GOLGA3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:58:52.107491+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.114",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Motor Neuron Disease. Sources: Literature\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEXB were set to 31995250; 24263030\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms MIM#268800\nReview for gene: HEXB was set to GREEN\nAdded comment: In cases with adult onset disease, lower motor neuron disorder has been reported as a presenting feature of the condition. Has been reported as a differential diagnosis for ALS/MND. \nSources: Literature",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:58:31.086720+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITCH as ready",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:58:31.074677+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itch has been classified as Red List (Low Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:58:28.059505+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to ",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:57:56.858414+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITCH as Red List (low evidence)",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:57:56.846450+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itch has been classified as Red List (Low Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:57:25.294328+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITCH: Rating: RED; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism 613385, primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:58.891596+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:58.880338+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:58.792906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PRICKLE3 as ready",
"entity_name": "PRICKLE3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:58.781963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: prickle3 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:47.055963+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HEXA as Green List (high evidence)",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:47.047090+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:46.439474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PRICKLE3 as Red List (low evidence)",
"entity_name": "PRICKLE3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:46.431825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Single variant only and questionable association due to uncertainty of role around ND4.",
"entity_name": "PRICKLE3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:46.371422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4789",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: prickle3 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:55:07.919769+11:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Motor Neuron Disease. Sources: Literature\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEXA were set to 31995250; 31076878\nPhenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800\nReview for gene: HEXA was set to GREEN\nAdded comment: In cases with adult onset disease, lower motor neuron disorder has been reported as a presenting feature of the condition. Has been reported as a differential diagnosis for ALS/MND. \nSources: Literature",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:52:18.214600+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.586",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: THOC1 was added\ngene: THOC1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: THOC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THOC1 were set to 32776944\nPhenotypes for gene: THOC1 were set to Nonsyndromic hearing loss\nReview for gene: THOC1 was set to AMBER\nAdded comment: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and in mouse it induced hair cell apoptosis. \nSources: Literature",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:51:49.412186+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.125",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AKNA was added\ngene: AKNA was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: AKNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKNA were set to PMID: 21606955\nPhenotypes for gene: AKNA were set to Primary ciliary dyskinesia\nReview for gene: AKNA was set to RED\nAdded comment: https://link.springer.com/article/10.1007/s00439-020-02170-2\r\nTwo siblings with homozygous PTCs with PCD. Carrier parents and mutation negative siblings (5) was normal.\r\n\r\nPMID: 21606955: Null mice have neonatal death with systemic inflammation and alveolar loss \nSources: Literature",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:50:57.664186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4788",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: AKNA was added\ngene: AKNA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AKNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKNA were set to PMID: 21606955\nPhenotypes for gene: AKNA were set to Primary ciliary dyskinesia\nReview for gene: AKNA was set to RED\nAdded comment: https://link.springer.com/article/10.1007/s00439-020-02170-2\r\nTwo siblings with homozygous PTCs with PCD. Carrier parents and mutation negative siblings (5) was normal.\r\n\r\nPMID: 21606955: Null mice have neonatal death with systemic inflammation and alveolar loss \nSources: Literature",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:50:36.338456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC1 as ready",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:50:36.328136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:50:24.880345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THOC1 as Amber List (moderate evidence)",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:50:24.870203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:49:36.815846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4787",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: GBF1 as ready",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:49:36.781982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4787",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gbf1 has been classified as Green List (High Evidence).",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:49:25.241883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4787",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: GBF1 as Green List (high evidence)",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:49:25.216637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4787",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: gbf1 has been classified as Green List (High Evidence).",
"entity_name": "GBF1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:44:31.424549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4786",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the induced hair cell apoptosis. \r\nSources: Literature; to: Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.\r\nFunctional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and in mouse it induced hair cell apoptosis. \r\nSources: Literature",
"entity_name": "THOC1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:40.432785+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNPC3 as ready",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:40.424016+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:36.743066+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Amber List (moderate evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:36.732666+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:35.576112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4786",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32306098; Phenotypes: non-syndromic congenital intestinal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:35.091068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4786",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: NUAK2 as Amber List (moderate evidence)",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:35.080926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4786",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nuak2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:28.806849+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNPC3 was added\ngene: RNPC3 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNPC3 were set to 29866761; 32462814\nPhenotypes for gene: RNPC3 were set to Growth hormone deficiency\nReview for gene: RNPC3 was set to AMBER\nAdded comment: Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present. \nSources: Literature",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:21.561262+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.125",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ITCH was added\ngene: ITCH was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism\t613385; primary ciliary dyskinesia\nReview for gene: ITCH was set to RED\nAdded comment: https://link.springer.com/article/10.1007/s00439-020-02170-2\r\n\r\nSingle patient with biallelic start-loss variant and primary ciliary dyskinesia \nSources: Literature",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:14.411085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNPC3 as ready",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:43:14.400589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:42:26.159986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNPC3 as Amber List (moderate evidence)",
"entity_name": "RNPC3",
"entity_type": "gene"
},
{
"created": "2020-10-05T15:42:26.149524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNPC3",
"entity_type": "gene"
}
]
}