HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1107",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1105",
"results": [
{
"created": "2021-12-02T16:36:27.745667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: islr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:35:45.621324+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC93B1 as ready",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:35:45.610779+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:35:42.471257+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:35:11.570105+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC93B1 were set to ",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:34:40.867525+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:34:16.119828+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC93B1 as Amber List (moderate evidence)",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:34:16.109524+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:33:50.476550+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16973841, 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:33:30.206116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC93B1 as ready",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:33:30.195918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:32:40.948947+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC93B1 as ready",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:32:40.939320+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:32:36.855608+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:32:08.651975+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC93B1 were set to ",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:31:43.025436+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:31:18.389102+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC93B1 as Amber List (moderate evidence)",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:31:18.379065+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:30:47.662037+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 16973841, 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:30:27.107015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:30:13.151777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC93B1 were set to ",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:30:03.088816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:29:28.775982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC93B1 as Amber List (moderate evidence)",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:29:28.765001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:29:10.637046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:27:24.898469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC93B1 as Red List (low evidence)",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:27:24.886968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc93b1 has been classified as Red List (Low Evidence).",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:23:21.697762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXJ1 as ready",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:23:21.685518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:23:10.129790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXJ1 as Green List (high evidence)",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:23:10.120123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxj1 has been classified as Green List (High Evidence).",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:22:01.223011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF2 as ready",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:22:01.211249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Green List (High Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:21:55.655997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF2 as Green List (high evidence)",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:21:55.645263+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef2 has been classified as Green List (High Evidence).",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:20:59.067620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL1 as ready",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:20:59.054955+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:20:29.468175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLL1 as Green List (high evidence)",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:20:29.456428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll1 has been classified as Green List (High Evidence).",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:19:32.796172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP11A as ready",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:19:32.783135+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:19:26.373886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP11A as Amber List (moderate evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:19:26.364540+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:18:33.117181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLS3 as ready",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:18:33.107972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Green List (High Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:18:22.677874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLS3 were changed from to Bone mineral density QTL18, osteoporosis - MIM#300910",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:18:04.567693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLS3 were set to ",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:17:45.265803+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:WNT10A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-02T16:17:14.700877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLS3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:16:56.558295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655496, 25209159, 29736964, 29884797, 28777485, 24088043; Phenotypes: Bone mineral density QTL18, osteoporosis - MIM#300910; 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": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:15:36.848319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLS3 as ready",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:15:36.837036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:15:26.851061+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLS3 as Amber List (moderate evidence)",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:15:26.840272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:14:22.502907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP9 as ready",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:14:22.488163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Green List (High Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:11:35.826095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2, MIM# 613073",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:11:16.098626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMP9 were set to ",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:10:54.826500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:10:36.325178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615667, 28342220, 34407464; Phenotypes: Metaphyseal anadysplasia 2, MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:08:40.634073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP9 as ready",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:08:40.602299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:08:30.222577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP9 as Amber List (moderate evidence)",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:08:30.211660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T16:08:18.362950+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 2 - MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T15:12:55.865797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZFPM2 was added\ngene: ZFPM2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFPM2 were set to 16103912; 17568391; 24702427; 10892744; 21919901; 14517948\nPhenotypes for gene: ZFPM2 were set to 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot\t- MIM# 187500\nReview for gene: ZFPM2 was set to GREEN\nAdded comment: Associated with congenital diaphragmatic hernia, congenital heart disease and sex reversal. \nSources: Expert list, Literature",
"entity_name": "ZFPM2",
"entity_type": "gene"
},
{
"created": "2021-12-02T15:06:43.418513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SLIT3 was added\ngene: SLIT3 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLIT3 were set to 33933663\nPhenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia\nReview for gene: SLIT3 was set to AMBER\nAdded comment: Two affected individuals, single family, supportive mouse model. \nSources: Expert list, Literature",
"entity_name": "SLIT3",
"entity_type": "gene"
},
{
"created": "2021-12-02T15:00:59.400123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TRIM71 was added\ngene: TRIM71 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM71 were set to 29983323; 32168371; 30975633\nPhenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 - #618667\nReview for gene: TRIM71 was set to GREEN\nAdded comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.\r\n\r\nPMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder\r\n\r\nPMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism. \nSources: Literature, Expert list",
"entity_name": "TRIM71",
"entity_type": "gene"
},
{
"created": "2021-12-02T14:58:14.622948+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.57",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF11A were set to 18606301; 32048120\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301\nReview for gene: TNFRSF11A was set to GREEN\nAdded comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.\r\n\r\nAlthough antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203) \nSources: Literature",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T14:56:36.397160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T14:55:34.197315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T14:55:09.953839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF11A were set to 18606301; 32048120\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301\nReview for gene: TNFRSF11A was set to AMBER\nAdded comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.\r\n\r\nAlthough antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203) \nSources: Literature",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T14:29:59.105220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: RNF125 was added\ngene: RNF125 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF125 were set to 25196541\nPhenotypes for gene: RNF125 were set to Tenorio syndromem - MIM# 616260\nReview for gene: RNF125 was set to GREEN\nAdded comment: 1 de novo deletion and 3 missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability and mild hydrocephaly. \nSources: Literature",
"entity_name": "RNF125",
"entity_type": "gene"
},
{
"created": "2021-12-02T14:13:58.726401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to 28556411; 23240096; 30518636; 29499638\nPhenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219\nReview for gene: MPDZ was set to GREEN\nAdded comment: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. \nSources: Expert list, Literature",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:59:26.387968+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF4A was added\ngene: KIF4A was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KIF4A were set to 24812067; 34346154; 30679815\nPhenotypes for gene: KIF4A were set to ?Intellectual developmental disorder, X-linked 100\t- OMIM# 300923; Hydrocephalus\nReview for gene: KIF4A was set to GREEN\nAdded comment: KIF4A variants associated with a phenotypic spectrum from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end. \nSources: Expert list, Literature",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:56:28.809620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9993",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ERMAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood types; Mode of inheritance: None",
"entity_name": "ERMAP",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:53:37.771300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ISLR2 was added\ngene: ISLR2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISLR2 were set to 30483960\nPhenotypes for gene: ISLR2 were set to Hydrocephalus; arthrogryposis\nReview for gene: ISLR2 was set to AMBER\nAdded comment: Homozygous truncating variant in a single consanguineous family segregated with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension. Mouse model also had hydrocephalus. \nSources: Expert list, Literature",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:50:15.941743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9993",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: UNC93B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16973841; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:49:37.523338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FOXJ1 was added\ngene: FOXJ1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXJ1 were set to 31630787\nPhenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43 - MIM# 618699\nReview for gene: FOXJ1 was set to GREEN\nAdded comment: Six unrelated individuals with de novo variants in this gene associated with a motile ciliopathy characterized by hydrocephalus, chronic destructive airway disease, and\r\nrandomization of left/right body asymmetry \nSources: Expert list, Literature",
"entity_name": "FOXJ1",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:40:32.586559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EEF2 was added\ngene: EEF2 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EEF2 were set to 33355653\nPhenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus\nReview for gene: EEF2 was set to GREEN\nAdded comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. \nSources: Literature, Expert list",
"entity_name": "EEF2",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:35:29.956517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DLL1 was added\ngene: DLL1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLL1 were set to 31353024\nPhenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709\nReview for gene: DLL1 was set to GREEN\nAdded comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed non-specific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. \nSources: Expert list, Literature",
"entity_name": "DLL1",
"entity_type": "gene"
},
{
"created": "2021-12-02T13:23:23.939501+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ATP11A was added\ngene: ATP11A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP11A were set to 34403372\nPhenotypes for gene: ATP11A were set to Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum\nReview for gene: ATP11A was set to AMBER\nAdded comment: PMID: 34403372\r\n- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. Epilepsy diagnosed at 2 weeks of age followed by global developmental delay, mild hypothyroidism and cataracts. \r\n- Repeated MRI (earliest published is from age 2 yo) showed non-progressive severe cerebral atrophy, enlarged subarachnoid space, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. \r\n- Axonal neuropathy suggested.\r\n- K/I heterozygous mice died perinatally.\r\n- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.\r\n\r\ngnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. \nSources: Literature",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2021-12-02T12:43:52.038288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PLS3 was added\ngene: PLS3 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: PLS3 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 gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043\nPhenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910\nReview for gene: PLS3 was set to AMBER\nAdded comment: First reported in 2013 (PMID 24088043). Associated with childhood-onset primary osteoporosis with presentations of varying severity with a phenotype similar to osteogenesis imperfecta. \r\n\r\nNo published reports of antenatal diagnosis. \nSources: Expert list, Literature",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2021-12-02T12:11:37.134034+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MMP9 was added\ngene: MMP9 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP9 were set to 19615667; 28342220; 34407464\nPhenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 - MIM# 613073\nReview for gene: MMP9 was set to GREEN\nAdded comment: Biallelic variants in MMP9 associated with autosomal recessive, metaphyseal anadysplasia type 2. Usually associated with a milder phenotype characterised by normal birth length, transitory bowing of the legs, spontaneous regression and disappearance of metaphyseal alterations during adolescence. Phenotype of MAD type 2 cases secondary to biallelic MMP13 gene mutations (more reported cases associated with this gene) similar to MMP9 associated cases.\r\n\r\nMMP9-associated MAD type 2 cases reported so far:\r\n\r\nx2 sibs from 1 consanguineous Pakistani family diagnosed postnatally with normal stature, genu varum, metaphyseal fraying during infancy (PMID 19615667) \r\n\r\nx1 child from consanguineous family with homozygous nonsense variants diagnosed age 19 months with improvement of skeletal manifestations over a short period and by an early age (PMID 34407464)\r\n\r\nx2 siblings from x1 non-consanguineous Jewish Caucasian family reported with more severe phenotype than other previously reported cases for MAD type 2 (PMID 28342220). Both siblings diagnosed during 2nd trimester with shortening of long bones. x1 fetus terminated at 19 weeks gestation - dysmorphic face including micrognathia, flattened nose, hypertelorism, short neck and hypoplastic lungs. 2nd liveborn female - reduced body length at birth (-4 SD), facial dysmorphism, cleft palate, anteriorly placed anus and other anomalies. No radiographic metaphyseal anomalies. Both children identified as having the same homozygous MMP9 missense variants. Authors acknowledge the phenotype is more severe than other previously reported cases of MAD type 2 associated with MMP9 or MMP13 gene variants. Some dispute regarding this prenatal case as detailed by PMID 34407464 such as possibility of an alternative skeletal dysplasia diagnosis (Desbuquois dypslasia type 2) and presence of 5 homozygotes in gnomad with the same missense variants - ?founder mutation.\r\n\r\nBorderline amber-green gene in the prenatal setting based on current evidence. \nSources: Expert list, Literature",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2021-12-02T11:39:51.499912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-12-02T11:39:51.487186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-12-02T11:39:31.077576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-12-02T11:38:57.250486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDN3 were set to ",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-12-02T11:37:38.912170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-12-02T11:37:17.738208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 9359047, 10231870, 30171849, 27370713; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Waardenburg syndrome, type 4B, MIM# 613265, {Hirschsprung disease, susceptibility to, 4}, MIM# 613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:43:29.236719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCNKB as ready",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:43:29.225446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcnkb has been classified as Green List (High Evidence).",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:43:22.490352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:43:08.866405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCNKB were set to ",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:42:49.993442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCNKB as Green List (high evidence)",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:42:49.981523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcnkb has been classified as Green List (High Evidence).",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-02T09:42:38.957413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance. ID described in digenic inheritance.; to: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance.\r\n\r\nCan present antenatally with polyhydramnios",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2021-12-01T19:34:25.439361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH11 as ready",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-12-01T19:34:25.429824+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah11 has been classified as Green List (High Evidence).",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-12-01T19:34:20.691401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia 611884 to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884",
"entity_name": "DNAH11",
"entity_type": "gene"
}
]
}