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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1887",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1885",
"results": [
{
"created": "2020-04-03T14:27:12.114869+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note mono allelic variants in POLD1 are associated with Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#\t615381",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:27:12.081413+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:26:39.490654+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLD1 as Amber List (moderate evidence)",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:26:39.481847+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:26:09.925707+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: POLD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD1 were set to 31629014\nPhenotypes for gene: POLD1 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability\nReview for gene: POLD1 was set to AMBER\nAdded comment: Three individuals from two generations of a consanguineous family reported, some functional data. \nSources: Expert list",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:18:03.402744+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZAP70 as ready",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:18:03.389611+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Green List (High Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:17:58.303796+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:17:23.304662+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ZAP70 was changed from to Other",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:17:00.707402+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:16:30.120748+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Immunodeficiency 48, MIM# 269840, Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:11:46.603227+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICOSLG as ready",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:11:46.593485+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icoslg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:11:43.164261+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICOSLG as Amber List (moderate evidence)",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:11:43.155079+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icoslg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:11:17.644327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:11:12.998758+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICOSLG was added\ngene: ICOSLG was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: ICOSLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICOSLG were set to 31532372; 30498080\nPhenotypes for gene: ICOSLG were set to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia\nReview for gene: ICOSLG was set to AMBER\nAdded comment: One, possibly two, reports (one not in English), some functional data. \nSources: Expert list",
"entity_name": "ICOSLG",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:07:36.494182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD247 were set to ",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:06:27.528406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD247 as Red List (low evidence)",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:06:27.518675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd247 has been classified as Red List (Low Evidence).",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:06:27.025091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:04:29.304912+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD247 as ready",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:04:29.291888+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd247 has been classified as Red List (Low Evidence).",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:04:04.179351+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:03:38.105410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD247: Rating: RED; Mode of pathogenicity: None; Publications: 16672702; Phenotypes: Immunodeficiency 25, MIM# 610163, Absent T cells, Normal B cells, Normal NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:03:36.031753+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD247 were set to ",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:03:14.340148+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:02:49.001263+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD247 as Red List (low evidence)",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:02:48.988163+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd247 has been classified as Red List (Low Evidence).",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:02:15.493564+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD247: Rating: RED; Mode of pathogenicity: None; Publications: 16672702; Phenotypes: Immunodeficiency 25, MIM# 610163, Absent T cells, Normal B cells, Normal NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:16:43.396539+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.106",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: NSMCE2 as Amber List (moderate evidence)",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:16:43.383744+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.106",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: nsmce2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:16:14.095263+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.105",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: NSMCE2 was added\ngene: NSMCE2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSMCE2 were set to 25105364\nPhenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10\nPenetrance for gene: NSMCE2 were set to Complete\nReview for gene: NSMCE2 was set to AMBER\nAdded comment: Biallelic hypomorphic variants in two unrelated women with microcephalic primordial dwarfism, insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure. Good quality functional evidence. No additional confirmatory cases since 2014 publication \nSources: Literature",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:12:23.858728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1901",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: NSMCE2 as Amber List (moderate evidence)",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:12:23.854465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1901",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two unrelated women with good functional evidence; but no additional cases since 2014",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:12:23.834058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1901",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: nsmce2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T23:11:42.868356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1900",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: NSMCE2 was added\ngene: NSMCE2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSMCE2 were set to 25105364\nPhenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10\nPenetrance for gene: NSMCE2 were set to Complete\nReview for gene: NSMCE2 was set to AMBER\nAdded comment: Biallelic hypomorphic variants in two unrelated women with microcephalic primordial dwarfism, insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure. Good quality functional evidence. No additional confirmatory cases since 2014 publication \nSources: Literature",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:55:43.121483+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-02T20:52:01.859183+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLVCR1 as ready",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:52:01.844969+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:51:58.130399+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLVCR1 as Green List (high evidence)",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:51:58.121360+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:51:49.599918+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLVCR1 was added\ngene: FLVCR1 was added to Hereditary Neuropathy - complex. Sources: Expert list\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR1 were set to 21267618; 21070897\nPhenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, MIM#\t609033\nReview for gene: FLVCR1 was set to GREEN\ngene: FLVCR1 was marked as current diagnostic\nAdded comment: Sources: Expert list",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:47:03.710770+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECOM were set to 26581901",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:43:04.721714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHA5 as Amber List (moderate evidence)",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:43:04.712720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:42:40.220804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: cleft lip, cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:30:43.313504+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFC1 as ready",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:30:43.300289+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfc1 has been classified as Green List (High Evidence).",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:30:39.219858+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: RFC1.",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:30:22.131044+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFC1 as Green List (high evidence)",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:30:22.118054+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfc1 has been classified as Green List (High Evidence).",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-04-02T20:30:12.377796+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFC1 was added\ngene: RFC1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC1 were set to 30926972\nPhenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575\nReview for gene: RFC1 was set to GREEN\nAdded comment: 23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans. \nSources: Literature",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:52:49.410506+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20547126, 16564016, 21468319, 28314413, 24778270, 24564660, 20718100; Phenotypes: Episodic pain syndrome, familial, 1, MIM# 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:51:29.475253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPA1 as ready",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:51:29.466315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:51:19.705372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPA1 as Amber List (moderate evidence)",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:51:19.691693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpa1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:51:01.110747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPA1 was added\ngene: TRPA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPA1 were set to 20547126; 16564016; 21468319; 28314413; 24778270; 24564660; 20718100\nPhenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1, MIM# 615040\nReview for gene: TRPA1 was set to AMBER\nAdded comment: Single family and a lot of functional data. \nSources: Expert list",
"entity_name": "TRPA1",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:50:01.595153+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-02T18:46:53.310022+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:46:53.300756+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:43:42.037826+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Osteogenesis Imperfecta. Sources: NHS GMS\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 27789416; 29955634\nPhenotypes for gene: NBAS were set to short stature; bone fragility; developmental delay; immunodeficiency; autism\nReview for gene: NBAS was set to GREEN\nAdded comment: Three compound heterozygous cases with an OI multi-system phenotype. \nSources: NHS GMS",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:18:43.761262+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A46 as ready",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:18:43.751992+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a46 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:18:37.910401+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A46 as Green List (high evidence)",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:18:37.897555+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a46 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-02T18:18:28.388135+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A46 was added\ngene: SLC25A46 was added to Hereditary Neuropathy - complex. Sources: Expert list\nMode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A46 were set to 26168012; 27543974\nPhenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM#\t616505\nReview for gene: SLC25A46 was set to GREEN\nAdded comment: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. \nSources: Expert list",
"entity_name": "SLC25A46",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:59:06.019635+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPOX as ready",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:59:06.006043+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:59:02.227993+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPOX as Green List (high evidence)",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:59:02.219164+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:58:54.073520+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPOX was added\ngene: PPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS\nMode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPOX were set to Porphyria variegata, MIM#\t176200\nReview for gene: PPOX was set to GREEN\nAdded comment: Neuropathy is part of the phenotype. \nSources: NHS GMS",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:53:31.518360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1896",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: PLEKHA5 as ready",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:53:31.505363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1896",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: plekha5 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:53:01.323927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1896",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: PLEKHA5 was added\ngene: PLEKHA5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLEKHA5 were set to 29805042\nPhenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate\nPenetrance for gene: PLEKHA5 were set to Complete\nReview for gene: PLEKHA5 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2020-04-02T17:01:22.074248+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.45",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901, 29519864; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2020-04-02T13:57:42.246874+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERC as ready",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2020-04-02T13:57:42.233977+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terc has been classified as Green List (High Evidence).",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2020-04-02T13:55:15.649231+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2020-04-02T13:54:38.028938+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2020-04-02T13:53:44.642359+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:19:11.204448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNKSR1 as ready",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:19:11.185543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:19:01.867159+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNKSR1 as Amber List (moderate evidence)",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:19:01.857612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:18:44.312776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNKSR1 was added\ngene: CNKSR1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNKSR1 were set to 30450701; 30237576; 21937992\nPhenotypes for gene: CNKSR1 were set to Intellectual disability\nReview for gene: CNKSR1 was set to AMBER\nAdded comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model. \nSources: Expert Review",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:17:14.231779+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNKSR1 as ready",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:17:14.218589+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:16:05.832251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNKSR1 as Amber List (moderate evidence)",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:16:05.823495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnksr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:15:28.514095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNKSR1 was added\ngene: CNKSR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNKSR1 were set to 30450701; 30237576; 21937992\nPhenotypes for gene: CNKSR1 were set to Intellectual disability\nReview for gene: CNKSR1 was set to AMBER\nAdded comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model. \nSources: Expert Review",
"entity_name": "CNKSR1",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:03:35.588993+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD4A as ready",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:03:35.575256+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:03:30.866852+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD4A as Amber List (moderate evidence)",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:03:30.857254+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:03:02.893023+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD4A was added\ngene: FRMD4A was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRMD4A were set to 25388005; 30214071\nPhenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819\nReview for gene: FRMD4A was set to AMBER\nAdded comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant. \nSources: Expert Review",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:01:14.937081+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD4A as ready",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:01:14.921803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2020-04-02T11:01:05.197168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD4A as Amber List (moderate evidence)",
"entity_name": "FRMD4A",
"entity_type": "gene"
}
]
}