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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=912",
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"results": [
{
"created": "2022-03-28T10:32:11.237227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12053",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LDHB were changed from to Lactate dehydrogenase B deficiency, MIM# 614128",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:31:49.805245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12052",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LDHB were set to ",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:31:28.053273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12051",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:31:10.317307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12050",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LDHB as Red List (low evidence)",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:31:10.312703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12050",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not associated with clinical disease",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:31:10.289883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12050",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Red List (Low Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:30:51.900840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12049",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132884, PMID: 26741492, PMID: 17160893, PMID: 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:30:22.110921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12049",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:16:28.312140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12049",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LCAT as ready",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:16:28.300241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12049",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lcat has been classified as Green List (High Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:14:25.632833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12049",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LCAT were changed from to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:14:06.360187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12048",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LCAT were set to ",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:13:46.459186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12047",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LCAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:13:12.777396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12046",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900, Fish-Eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:06:29.755363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12046",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LCA5 as ready",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:06:29.741276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12046",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lca5 has been classified as Green List (High Evidence).",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:06:20.424721+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12046",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: LCA5 were changed from to Leber Congenital Amaurosis 5, MIM# 604537",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:05:58.740475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12045",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: LCA5 were set to ",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:05:45.146524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12044",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Mode of inheritance for gene: LCA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-03-28T10:05:14.816062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17546029; Phenotypes: Leber Congenital Amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-03-28T09:58:43.505928+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.212",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702954, 29478779, 31687637, 27363585, 29222010, 29663647; Phenotypes: 46,XX sex reversal 5 - MIM#618901, Congenital heart defects, multiple types, 4 - MIM#615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-28T09:57:29.836632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702954, 29478779, 31687637, 27363585, 29222010, 29663647; Phenotypes: 46,XX sex reversal 5 - MIM#618901, Congenital heart defects, multiple types, 4 - MIM#615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-28T09:49:58.676631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301590, 30324420, 19718767, 33138239; Phenotypes: Retinitis pigmentosa 37 - MIM#611131, Enhanced S-cone syndrome - MIM#268100, Goldmann-Favre syndrome - MONDO#0100289, retinal dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NR2E3",
"entity_type": "gene"
},
{
"created": "2022-03-28T09:35:32.727755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NR0B2",
"entity_type": "gene"
},
{
"created": "2022-03-28T09:31:06.149153+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NPSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NPSR1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:33:06.112334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSMB as ready",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:33:06.101693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmb has been classified as Red List (Low Evidence).",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:32:56.334087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MSMB were changed from to {Prostate cancer, hereditary, 13} 611928",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:32:37.577880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSMB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:32:16.547143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSMB as Red List (low evidence)",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:32:16.536595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msmb has been classified as Red List (Low Evidence).",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:31:59.282229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MSMB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Prostate cancer, hereditary, 13} 611928; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MSMB",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:29:53.031094+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SON as ready",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:29:53.018851+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: son has been classified as Green List (High Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:29:48.495999+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SON were changed from to ZTTK syndrome, MIM# 617140",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:29:21.705325+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SON were set to ",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:28:48.662732+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:28:19.116264+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:27:25.215632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SON as ready",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:27:25.199447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: son has been classified as Green List (High Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:27:17.375588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SON were changed from to ZTTK syndrome, MIM# 617140",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:26:57.490046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SON were set to ",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:26:35.651707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:26:16.249648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:25:02.736024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX3 as ready",
"entity_name": "SNX3",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:25:02.723747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx3 has been classified as Red List (Low Evidence).",
"entity_name": "SNX3",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:24:51.380869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX3 as Red List (low evidence)",
"entity_name": "SNX3",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:24:51.369765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx3 has been classified as Red List (Low Evidence).",
"entity_name": "SNX3",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:24:33.383358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SNX3",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:22:43.084030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938; {Meningioma, familial, susceptibility to}\t607174",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:22:21.745187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.\r\n\r\nAccounts for ~2% of Coffin Siris syndrome.; to: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.\r\n\r\nAccounts for ~2% of Coffin Siris syndrome.\r\n\r\nGermline LoF variants also linked to familial meningioma.",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:22:02.058416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMARCE1: Changed publications: 23377182, 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Changed phenotypes: Coffin-Siris syndrome 5, MIM# 616938, {Meningioma, familial, susceptibility to} 607174",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:19:56.524031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCE1 were set to 22426308; 23906836; 23929686; 32732226; 32436246; 32410215; 34205270",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:17:13.674613+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCE1 as ready",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:17:13.661692+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:17:08.384956+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:16:32.614432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCE1 were set to ",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:15:15.399340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:14:42.503992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:14:02.792958+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCE1 as ready",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:14:02.767690+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:14:00.339184+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:13:32.684209+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCE1 were set to ",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:13:05.449345+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:12:34.903976+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:12:06.908825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCE1 as ready",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:12:06.894816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:11:59.149133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:11:37.906640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCE1 were set to ",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:11:07.863449+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T18:10:50.305318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:34:07.700186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAX as ready",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:34:07.687193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:33:56.481881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:33:19.602264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAX were set to ",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:26:58.197000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:26:39.288170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:24:50.818961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT1A as ready",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:24:50.804390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Green List (High Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:24:42.853019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:24:23.451711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAT1A were set to ",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:24:04.034747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:16:46.800736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX14 as ready",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:16:46.787952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Green List (High Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:16:41.995268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:16:09.765035+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNX14 were set to ",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:15:37.979802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:15:04.168205+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:14:26.827264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX14 as ready",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:14:26.815027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Green List (High Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:14:18.839133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:13:58.988839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNX14 were set to ",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:13:39.562313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:13:20.884140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:10:57.577318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORD118 as ready",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:10:57.565743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snord118 has been classified as Green List (High Evidence).",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:10:49.440417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:10:29.132351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNORD118 were set to ",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:10:09.695489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:09:51.296728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNORD118",
"entity_type": "gene"
}
]
}