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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1482",
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"results": [
{
"created": "2020-12-09T11:00:28.177826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T11:00:04.148671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:59:44.022275+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:59:07.011991+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:31:31.163470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1A as ready",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:31:31.153259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:31:23.038638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1A were changed from to Kabuki syndrome",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:31:02.373518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAP1A were set to ",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:30:09.138495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:29:50.275951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1A as Amber List (moderate evidence)",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:29:50.258791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:29:30.861001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAP1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:28:38.763429+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Amber List (moderate evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:28:38.753485+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:27:59.340616+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like.; to: Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like. Functional data supports gene-disease association but degree of overlap with KS questionable.",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:27:26.649584+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Changed rating: AMBER",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:27:16.651340+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1A as ready",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:27:16.626170+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:27:13.678867+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1A were changed from to Kabuki syndrome",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:26:39.033874+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAP1A were set to ",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:26:00.882696+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:25:31.408331+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1A as Amber List (moderate evidence)",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:25:31.397988+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:25:02.438869+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAP1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1A",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:18:13.930002+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAP1B were set to PMID: 32627184",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:15:18.769240+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Green List (high evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:15:18.758414+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Green List (High Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:14:45.129105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Added comment: Another individual with de novo missense variant from a Kabuki-like cohort but note facial gestalt was not typical, had DD.; Changed rating: GREEN; Changed publications: 32627184, 26280580",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:13:11.411128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAP1B were set to 32627184",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:12:49.273783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Green List (high evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:12:49.265983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Green List (High Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:12:31.282698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAP1B: Added comment: Another individual with de novo missense reported from a cohort of Kabuki-like patients but note facial gestalt was not typical.; Changed rating: GREEN; Changed publications: 32627184, 26280580",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:11:23.735897+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1B as ready",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:11:23.725563+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Red List (Low Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:11:20.627000+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from to Kabuki syndrome",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:10:51.713620+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAP1B were set to ",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:10:22.660526+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:09:54.103676+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Red List (low evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:09:54.092966+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Red List (Low Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-09T10:09:26.114733+11:00",
"panel_name": "Kabuki syndrome",
"panel_id": 134,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:05:57.904334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1B as ready",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:05:57.893277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:05:49.491802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAP1B were changed from to RAP1B‐associated syndrome; intellectual disability; microcephaly; thrombocytopaenia",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:05:27.939225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAP1B were set to ",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:05:08.487792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:04:37.815254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Amber List (moderate evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:04:37.807251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:04:19.248682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184; Phenotypes: RAP1B‐associated syndrome, intellectual disability, microcephaly, thrombocytopaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:02:53.079561+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:02:19.592056+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAP1B as ready",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:02:19.583432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:02:13.657916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAP1B as Amber List (moderate evidence)",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:02:13.646773+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rap1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:00:17.537544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMC10 as ready",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:00:17.522379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc10 has been classified as Red List (Low Evidence).",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2020-12-08T17:00:01.745098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMC10 was added\ngene: EMC10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMC10 were set to 32869858\nPhenotypes for gene: EMC10 were set to Intellectual disability\nReview for gene: EMC10 was set to RED\nAdded comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.\r\n\r\nOne Saudi family with 2 affected individuals with mild ID, speech delay, and GDD. \r\nWES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients. \nSources: Literature",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2020-12-08T15:38:01.678158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3264",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RAP1B was added\ngene: RAP1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAP1B were set to PMID: 32627184\nPhenotypes for gene: RAP1B were set to RAP1B‐associated phenotype, no OMIM #\nReview for gene: RAP1B was set to RED\nAdded comment: De novo variants in the RAP1B gene (c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg)) in two unrelated patients with thrombocytopenia, microcephaly, learning difficulties, renal malformations, structural anomalies of the brain and other features (not Kabuki like). \r\n\r\nRAP1B is a member of the RAS superfamily of small GTPases. There is strong evidence that the p.Gly12Val and p.Gly60Arg variants in the RAP1B gene lead into a dysregulation of the downstream pathway. Both substitutions have been described previously as dominant constitutively active in RAS‐related proteins (gain of function variants). \nSources: Literature",
"entity_name": "RAP1B",
"entity_type": "gene"
},
{
"created": "2020-12-08T15:20:27.887437+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3263",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EMC10 was added\ngene: EMC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EMC10 were set to PMID: 32869858\nPhenotypes for gene: EMC10 were set to Developmental delay and intellectual disability, no OMIM#\nReview for gene: EMC10 was set to RED\nAdded comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.\r\n\r\nOne Saudi family with 2 affected individuals with mild ID, speech delay, and GDD. \r\nWES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients. \nSources: Literature",
"entity_name": "EMC10",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:28:49.922016+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37467-Gain as ready",
"entity_name": "ISCA-37467-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T10:28:49.911480+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37467-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37467-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T10:28:46.282368+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37467-Gain as Green List (high evidence)",
"entity_name": "ISCA-37467-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T10:28:46.271149+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37467-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37467-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T10:28:36.906937+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37467-Gain was added\nRegion: ISCA-37467-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787\nPhenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM#\t186200; limb anomalies; congenital heart disease; congenital anomalies\nReview for Region: ISCA-37467-Gain was set to GREEN\nAdded comment: The ZPA regulatory sequence (ZRS) of SHH is located within intron 5 of LMBR1.\r\n\r\nMultiple reports of isolated and syndromic limb anomalies in association with duplications of this region. \nSources: Expert list",
"entity_name": "ISCA-37467-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T10:16:17.760508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO28 as ready",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:16:17.720464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:14:18.598144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO28 as Green List (high evidence)",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:14:18.583207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:13:54.563890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO28 was added\ngene: FBXO28 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO28 were set to 33280099\nPhenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy\nReview for gene: FBXO28 was set to GREEN\nAdded comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features. \nSources: Literature",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:11:58.180068+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO28 as ready",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:11:58.169684+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:11:53.422146+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO28 as Green List (high evidence)",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:11:53.414646+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:11:25.215474+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO28 was added\ngene: FBXO28 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO28 were set to 33280099\nPhenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy\nReview for gene: FBXO28 was set to GREEN\nAdded comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features. \nSources: Literature",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:11:22.943513+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features. \nSources: Literature; to: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features. \r\nSources: Literature",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:10:47.830018+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO28 as ready",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:10:47.816350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:10:05.890067+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO28 as Green List (high evidence)",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:10:05.846479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T10:09:29.093789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXO28 was added\ngene: FBXO28 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO28 were set to 33280099\nPhenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy\nReview for gene: FBXO28 was set to GREEN\nAdded comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features. \nSources: Literature",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2020-12-08T09:57:35.914230+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 29114388, 22983507, 22697072, 19779048, 31681265; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: Other",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2020-12-08T08:14:06.830466+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37442-Gain as ready",
"entity_name": "ISCA-37442-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T08:14:06.820916+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37442-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37442-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T08:14:03.576383+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37442-Gain as Green List (high evidence)",
"entity_name": "ISCA-37442-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T08:14:03.568579+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37442-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37442-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T08:13:55.481507+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37442-Gain was added\nRegion: ISCA-37442-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37442-Gain.\nMode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37442-Gain were set to 8842729\nPhenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM#\t601410\nReview for Region: ISCA-37442-Gain was set to GREEN\nAdded comment: Transient neonatal diabetes mellitus-1 (TNDM1; '6q diabetes') is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains PLAGL1.\r\n\r\nThree genetic mechanisms had been shown to result in TNDM: paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI (promoter of PLAGL1). Note that over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. \nSources: Expert list",
"entity_name": "ISCA-37442-Gain",
"entity_type": "region"
},
{
"created": "2020-12-08T08:01:31.540450+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37417-Loss as ready",
"entity_name": "ISCA-37417-Loss",
"entity_type": "region"
},
{
"created": "2020-12-08T08:01:31.530399+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37417-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37417-Loss",
"entity_type": "region"
},
{
"created": "2020-12-08T08:01:18.149346+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37417-Loss as Green List (high evidence)",
"entity_name": "ISCA-37417-Loss",
"entity_type": "region"
},
{
"created": "2020-12-08T08:01:18.142366+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37417-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37417-Loss",
"entity_type": "region"
},
{
"created": "2020-12-08T08:00:56.293248+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37417-Loss was added\nRegion: ISCA-37417-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM#\t308100\nReview for Region: ISCA-37417-Loss was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list",
"entity_name": "ISCA-37417-Loss",
"entity_type": "region"
},
{
"created": "2020-12-07T19:24:42.679196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP52 was added\ngene: CFAP52 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP52 were set to 25469542; 33139725\nPhenotypes for gene: CFAP52 were set to Heterotaxy\nReview for gene: CFAP52 was set to GREEN\nAdded comment: Five unrelated families and functional data. \nSources: Literature",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:24:25.586641+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP52 as ready",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:24:25.575706+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap52 has been classified as Green List (High Evidence).",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:23:37.740101+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP52 as Green List (high evidence)",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:23:37.729311+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap52 has been classified as Green List (High Evidence).",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:23:07.066695+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP52 was added\ngene: CFAP52 was added to Heterotaxy. Sources: Literature\nMode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP52 were set to 25469542; 33139725\nPhenotypes for gene: CFAP52 were set to Heterotaxy\nReview for gene: CFAP52 was set to GREEN\nAdded comment: Five unrelated families and functional data. \nSources: Literature",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:18:51.876125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP45 was added\ngene: CFAP45 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP45 were set to 33139725\nPhenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia\nReview for gene: CFAP45 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype. \nSources: Literature",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:18:36.186425+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP45 as ready",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:18:36.174544+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap45 has been classified as Green List (High Evidence).",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2020-12-07T19:18:33.893180+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP45 as Green List (high evidence)",
"entity_name": "CFAP45",
"entity_type": "gene"
}
]
}