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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1402",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1400",
"results": [
{
"created": "2021-02-25T11:50:44.332234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6445",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcg2 has been classified as Red List (Low Evidence).",
"entity_name": "ABCG2",
"entity_type": "gene"
},
{
"created": "2021-02-25T11:50:20.496809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6444",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ABCG2: Rating: RED; Mode of pathogenicity: None; Publications: 22246505, 20368174, 26810134; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ABCG2",
"entity_type": "gene"
},
{
"created": "2021-02-25T10:38:36.741122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6444",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SAT1 as ready",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2021-02-25T10:38:36.733178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6444",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Red List (Low Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2021-02-25T10:38:09.376036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6444",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SAT1 as Red List (low evidence)",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2021-02-25T10:38:09.365410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6444",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Red List (Low Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2021-02-25T10:37:36.790760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6443",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SAT1: Rating: RED; Mode of pathogenicity: None; Publications: 12215835, 20672378, 9228047; Phenotypes: Keratosis follicularis spinulosa decalvans; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:52:57.838386+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHDDS as ready",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:52:57.834582+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene is associated with multiple phenotypes, RP only reported in association with this founder Jewish Ashkenazi variant.",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:52:57.810125+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:52:27.162557+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Amber List (moderate evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:52:27.148787+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:49:16.378876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPI were set to 29567797",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:48:55.488603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALPI as Green List (high evidence)",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:48:55.478570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpi has been classified as Green List (High Evidence).",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:47:43.264491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPI: Added comment: Third family reported 2020, PMID 32084423.; Changed rating: GREEN; Changed publications: 29567797, 32084423",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:47:06.034000+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPI were set to 29567797",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:46:34.530752+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALPI as Green List (high evidence)",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T21:46:34.522465+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpi has been classified as Green List (High Evidence).",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T15:50:50.008017+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.\r\n; to: 3 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional (3rd) individual described in recent (2020) publication with bi-allelic variants in ALPI.",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T15:44:07.807876+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "changed review comment from: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper); to: 1 individual with clinically diagnosed inflammatory IBD - causal evidence: genetic, functional, pathology (as per paper) - in addition to 2 unrelated individuals from previous review.\r\n",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T15:40:27.751142+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.37",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "reviewed gene: ALPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32084423; Phenotypes: Inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:39:00.553033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6441",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MIR5004 as ready",
"entity_name": "MIR5004",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:39:00.542604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6441",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mir5004 has been classified as Red List (Low Evidence).",
"entity_name": "MIR5004",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:37:54.428254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6441",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MIR5004 as Red List (low evidence)",
"entity_name": "MIR5004",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:37:54.416077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6441",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mir5004 has been classified as Red List (Low Evidence).",
"entity_name": "MIR5004",
"entity_type": "gene"
},
{
"created": "2021-02-24T14:26:36.278614+11:00",
"panel_name": "Stroke_Adult",
"panel_id": 3141,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Stroke to Stroke_Adult",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-24T14:03:20.763687+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.81",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32272552, 33077723; Phenotypes: Retinitis pigmentosa 59 MIM#613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-02-24T13:59:32.286968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6440",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MIR5004: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "MIR5004",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:38:48.527983+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOGARAM1 as ready",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:38:48.519272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Green List (High Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:38:42.728902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM1 as Green List (high evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:38:42.720815+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Green List (High Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:38:09.093170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439; 32453716\nPhenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185\nReview for gene: TOGARAM1 was set to GREEN\nAdded comment: Six families reported with features of ciliopathy, including molar tooth sign consistent with Joubert syndrome. In some of the families the disorder presented prenatally; however, severe ID in survivors including absent speech. \nSources: Literature",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:36:06.380634+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOGARAM1 as ready",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:36:06.372419+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Green List (High Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:36:03.385940+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM1 as Green List (high evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:36:03.378212+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Green List (High Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:35:34.422698+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439; 32453716\nPhenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185\nReview for gene: TOGARAM1 was set to GREEN\nAdded comment: Six families reported with features of a ciliopathy, including molar tooth sign. \nSources: Literature",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:32:29.966772+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185; Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:31:49.529713+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOGARAM1 were set to 32747439",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:31:21.663596+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM1 as Amber List (moderate evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:31:21.655913+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:30:52.783921+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOGARAM1: Added comment: Additional family with microphthalmia as part of a ciliopathy phenotype reported in PMID 32453716.; Changed rating: AMBER; Changed publications: 32747439, 32453716",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:29:55.227113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:29:35.991589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOGARAM1 were set to 32747439",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:29:10.364947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM1 as Green List (high evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:29:10.354093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Green List (High Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:28:51.719520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32453716; Phenotypes: Joubert syndrome 37, MIM# 619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:28:06.640470+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOGARAM1: Changed phenotypes: Joubert syndrome 37, MIM# 619185",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:27:52.763033+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM#\t619185",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:26:44.750081+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TOGARAM1 were set to 32747439",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:26:14.775318+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOGARAM1 as Green List (high evidence)",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:26:14.767797+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Green List (High Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-24T06:25:43.438147+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TOGARAM1: Added comment: PMID 32453716: 5 unrelated individuals with Joubert syndrome.; Changed rating: GREEN; Changed publications: 32747439, 32453716",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:53:51.487012+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOB as ready",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:53:51.476016+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Red List (Low Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:53:46.945157+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM# 229600",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:53:23.027017+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:52:48.456877+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDOB as Red List (low evidence)",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:52:48.446143+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Red List (Low Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:52:16.790770+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:50:37.664994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOA as ready",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:50:37.652923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldoa has been classified as Green List (High Evidence).",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:50:29.031569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII , MIM#611881",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:50:10.228248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDOA were set to ",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:49:45.943905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:49:26.453218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:49:00.453251+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOA as ready",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:49:00.445070+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldoa has been classified as Green List (High Evidence).",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:48:43.061751+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII , MIM#611881",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:48:05.055014+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDOA were set to ",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:47:31.385329+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:47:00.488528+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:41:39.343137+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:40:08.660483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH5 as ready",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:40:08.649098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh5 has been classified as Green List (High Evidence).",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:40:00.693699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RDH5 were changed from to Fundus albipunctatus (MIM#136880)",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:39:40.678384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH5 were set to ",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:39:15.653988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:37:38.975617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1 as ready",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:37:38.964001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1 has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:37:25.643613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1 were changed from to Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:37:06.933179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1 were set to ",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-23T21:36:39.491677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-23T11:10:09.849284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6428",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33308271, 31666973; Phenotypes: Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:53:14.176085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRX4 as ready",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:53:14.158268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx4 has been classified as Red List (Low Evidence).",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:52:12.349302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRX4 were changed from to Ventricular septal defect",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:50:51.452812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRX4 were set to ",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:50:34.917577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:50:15.417023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRX4 as Red List (low evidence)",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:50:15.407096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx4 has been classified as Red List (Low Evidence).",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:49:57.975041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRX4: Rating: RED; Mode of pathogenicity: None; Publications: 21544582; Phenotypes: Ventricular septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:32:09.269916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKAP6 as ready",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:32:09.261707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akap6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:31:59.738356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKAP6 were changed from to Intellectual disability",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:31:33.438718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKAP6 were set to ",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:31:10.283487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2021-02-23T09:30:54.444330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKAP6 as Amber List (moderate evidence)",
"entity_name": "AKAP6",
"entity_type": "gene"
}
]
}