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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1221",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1219",
"results": [
{
"created": "2021-09-05T12:36:53.187196+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Additional reported of affected parent and child.; to: Additional report of affected parent and child.",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:36:46.043279+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ARF1: Additional reported of affected parent and child.",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:36:23.119067+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARF1: Changed publications: 28868155, 34353862; Changed phenotypes: Periventricular nodular heterotopia 8, MIM# 618185",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:35:36.396644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARF1 were set to 28868155",
"entity_name": "ARF1",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:34:03.239112+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS2 as ready",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:34:03.228390+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins2 has been classified as Red List (Low Evidence).",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:33:57.103733+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS2 was added\ngene: GINS2 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS2 were set to 34353863\nPhenotypes for gene: GINS2 were set to Meier-Gorlin syndrome with craniosynostosis\nReview for gene: GINS2 was set to RED\nAdded comment: Sa et al., 2021 (PMID: 34353863) identified a patient presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. A homozygous missense variant (c.341G>T, p.Arg114Leu) in GINS2 was identified that was heterozygous in both unaffected parents. Some supportive functional data included.\r\n\r\nGINS2 is not currently not associated with any phenotype in OMIM or G2P and no additional cases have been identified to date. \nSources: Literature",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:32:25.731027+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS2 as ready",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:32:25.721922+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins2 has been classified as Red List (Low Evidence).",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:32:13.961553+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GINS2 was added\ngene: GINS2 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS2 were set to 34353863\nPhenotypes for gene: GINS2 were set to Meier-Gorlin syndrome with craniosynostosis\nReview for gene: GINS2 was set to RED\nAdded comment: Sa et al., 2021 (PMID: 34353863) identified a patient presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. A homozygous missense variant (c.341G>T, p.Arg114Leu) in GINS2 was identified that was heterozygous in both unaffected parents. Some supportive functional data included. GINS2 is not currently not associated with any phenotype in OMIM or G2P and no additional cases have been identified to date. \nSources: Literature",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:31:59.825370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GINS2 as ready",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T12:31:59.816126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins2 has been classified as Red List (Low Evidence).",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T10:04:35.635453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GINS2 as Red List (low evidence)",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T10:04:35.625088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gins2 has been classified as Red List (Low Evidence).",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:03:34.475674+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANK1 as ready",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:03:34.466022+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ank1 has been classified as Green List (High Evidence).",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:03:31.207301+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANK1 were changed from Spherocytosis, type 1; Spherocytosis, type 1,182900; RBC membrane abnormality; 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality to Spherocytosis, type 1, MIM# 182900",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:03:21.550714+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANK1 were set to 7883994; 9590147; 11167760",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:03:05.945380+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640229; Phenotypes: Spherocytosis, type 1, MIM# 182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:00:09.588163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMN as ready",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T08:00:09.574327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amn has been classified as Green List (High Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:59:58.589247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMN were changed from to Imerslund-Grasbeck syndrome 2, MIM# 618882",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:59:38.583095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMN were set to ",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:59:18.852293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:59:01.410896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326; Phenotypes: Imerslund-Grasbeck syndrome 2, MIM# 618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:57:57.626244+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMN as ready",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:57:57.613610+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amn has been classified as Green List (High Evidence).",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:57:55.073100+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMN were changed from 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 to Imerslund-Grasbeck syndrome 2, MIM# 618882",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:57:44.997593+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMN were set to 17285242; 12590260",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-05T07:57:31.375572+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326; Phenotypes: Imerslund-Grasbeck syndrome 2, MIM# 618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2021-09-04T19:13:43.403977+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DMD as ready",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2021-09-04T19:13:43.392968+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dmd has been classified as Red List (Low Evidence).",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2021-09-04T19:13:30.894199+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DMD was added\nSTR: DMD was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for STR: DMD were set to 27417533\nPhenotypes for STR: DMD were set to Duchenne muscular dystrophy MIM#310200; Becker muscular dystrophy MIM#300376\nReview for STR: DMD was set to RED\nAdded comment: Single family reported with GAA repeat expansion in intron 62. Normal repeat range 11-33 in healthy controls. Expanded repeats range from 59-82 in the family, with 2 female carriers manifesting symptoms, a male foetus, 2 asymptomatic female carriers, and 2 male asymptomatic carriers ages 6 and 4 years. \nSources: Literature",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2021-09-04T16:20:04.646411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK1 as ready",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:20:04.635980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak1 has been classified as Green List (High Evidence).",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:19:57.387861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK1 were changed from to Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:19:33.959357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK1 were set to ",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:19:12.071011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:18:35.071332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2542324, 9432020, 10233365, 34321014; Phenotypes: Haemolytic anemia due to adenylate kinase deficiency, MIM# 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:17:50.172820+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK1 as ready",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:17:50.161081+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak1 has been classified as Green List (High Evidence).",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:17:47.692743+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK1 were changed from 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 to Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:17:34.429859+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK1 were set to 28211224",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:17:12.143884+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2542324, 9432020, 10233365, 34321014; Phenotypes: Haemolytic anemia due to adenylate kinase deficiency, MIM# 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:14:43.608004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAS2 as ready",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:14:43.590871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:14:37.271764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALAS2 were changed from to Anaemia, sideroblastic, 1, MIM# 300751; Protoporphyria, erythropoietic, X-linked, MIM# 300752",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:14:15.364878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALAS2 were set to ",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:13:54.106561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALAS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:13:38.335934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10029606, 7949148, 10029606, 25615817; Phenotypes: Anaemia, sideroblastic, 1, MIM# 300751, Protoporphyria, erythropoietic, X-linked, MIM# 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:11:21.748463+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAS2 as ready",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:11:21.733783+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:11:19.692359+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Sideroblastic anaemia 1; 300751 Anemia, sideroblastic, 1 to Anaemia, sideroblastic, 1, MIM# 300751",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:11:09.012399+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALAS2 were set to 10029606",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:10:59.055821+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALAS2: Added comment: The essential features of X-linked sideroblastic anemia include: (1) a hypochromic microcytic anaemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable haematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade.\r\n\r\nWell established gene-disease association.; Changed publications: 10029606, 7949148, 10029606",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:08:46.530564+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALAS2: Changed phenotypes: Anaemia, sideroblastic, 1, MIM# 300751",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:08:17.696460+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG8 as ready",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:08:17.685989+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg8 has been classified as Green List (High Evidence).",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:08:15.215501+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG8 were changed from 210250 sitosterolaemia; sitosterolaemia to Sitosterolemia 1, MIM# 210250",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:08:06.658917+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCG8 were set to ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:07:55.244715+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34304999, 33907061, 33807969; Phenotypes: Sitosterolemia 1, MIM# 210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:04:24.682751+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA2 as ready",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:04:24.666178+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Green List (High Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:04:22.353406+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA2 were changed from Diamond Blackfan anaemia to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:04:14.619459+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:02:55.154369+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency.\r\n\r\nAt least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.; to: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency.\r\n\r\nAt least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.\r\n\r\nAnaemia is a reported feature.",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:01:18.905362+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG5 as ready",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:01:18.895403+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg5 has been classified as Green List (High Evidence).",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:01:16.090007+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG5 were changed from to Sitosterolaemia 2, MIM# 618666",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:00:48.215039+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCG5 were set to ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T16:00:19.604905+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:59:45.530805+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34304999, 33907061, 32546081, 23556150; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:59:07.016183+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG5 as ready",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:59:07.005529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg5 has been classified as Green List (High Evidence).",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:58:58.494063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG5 were changed from to Sitosterolaemia 2, MIM# 618666",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:58:41.515820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCG5 were set to ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:58:23.859517+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:58:05.684335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34304999, 33907061, 32546081, 23556150; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:57:17.471397+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG5 as ready",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:57:17.461552+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg5 has been classified as Green List (High Evidence).",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:57:14.637502+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCG5 were set to 32546081; 23556150",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:57:00.410044+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABCG5: Changed publications: 34304999, 33907061, 32546081, 23556150",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:55:47.785441+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG5 were changed from 210250 sitosterolaemia; sitosterolaemia to Sitosterolaemia 2, MIM# 618666",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:55:39.515774+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCG5 were set to ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:55:25.530959+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32546081, 23556150; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2021-09-04T15:52:14.351584+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-04T13:49:48.873521+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:49:48.864310+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:49:44.077620+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:49:24.641913+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:48:55.574811+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:48:41.290979+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:48:12.532091+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCB7 as Red List (low evidence)",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:48:12.522116+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Red List (Low Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:47:49.401040+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: 10196363, 11050011, 34354969; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:45:39.027870+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:45:39.019075+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Green List (High Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:45:35.727103+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from 301310 Sideroblastic anaemia; Anemia, sideroblastic, with ataxia; Anemia, sideroblastic, with ataxia, 301310; 301310 Sideroblastic Anemia and Ataxia; Sideroblastic Anemia and Ataxia to Anaemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:45:23.477532+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to 11843825; 4045952; 11050011",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-09-04T13:45:00.465612+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 11050011, 34354969; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
}
]
}