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{
"count": 221284,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=683",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=681",
"results": [
{
"created": "2022-11-30T15:40:38.336749+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5039",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29930340; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:57:39.953296+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HECTD4 as ready",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:57:39.941453+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Green List (High Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:57:34.736746+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HECTD4 as Green List (high evidence)",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:57:34.724652+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Green List (High Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:57:03.407177+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HECTD4 was added\ngene: HECTD4 was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HECTD4 were set to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related\nReview for gene: HECTD4 was set to GREEN\nAdded comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. \nSources: Literature",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:55:59.777079+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:55:52.805690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HECTD4 as ready",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:55:52.793155+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hectd4 has been classified as Green List (High Evidence).",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:55:35.581692+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:54:55.792506+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, HECTD4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:53:10.308166+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3C as ready",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:53:10.291459+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3c has been classified as Green List (High Evidence).",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:53:05.580906+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE3C as Green List (high evidence)",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:53:05.569333+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3c has been classified as Green List (High Evidence).",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:52:34.904156+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE3C was added\ngene: UBE3C was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE3C were set to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related\nReview for gene: UBE3C was set to GREEN\nAdded comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. \nSources: Literature",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:51:17.710726+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3C as ready",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:51:17.697975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3c has been classified as Green List (High Evidence).",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:51:11.538431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:50:31.259673+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE3C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBE3C-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:48:40.325137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3C as ready",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:48:40.306559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3c has been classified as Green List (High Evidence).",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:48:31.110612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:48:02.803924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE3C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBE3C-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE3C",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:42:28.374150+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1148",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC25A19 was added\ngene: SLC25A19 was added to gNBS. Sources: Literature\nfor review tags were added to gene: SLC25A19.\nMode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A19 were set to 31095747\nPhenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710\nReview for gene: SLC25A19 was set to AMBER\nAdded comment: Established gene-disease association.\r\n\r\nOnset of acute encephalopathic attacks in childhood (3 to 7 years) often after febrile illness, full recovery after attacks. Onset of chronic progressive polyneuropathy in late childhood.\r\n\r\nTreatment: 5 patients treated with thiamine supplementation, which led to a substantial improvement in peripheral neuropathy and gait in early treated patients\r\n\r\nNon-genetic confirmatory test: No \nSources: Literature",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:27:55.869356+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF26A as ready",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:27:55.857983+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif26a has been classified as Green List (High Evidence).",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:27:51.171214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:23:31.625103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:23:14.233956+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF26A as ready",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:23:14.219298+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif26a has been classified as Green List (High Evidence).",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:23:11.673308+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:22:37.073105+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:22:18.749659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF26A as ready",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:22:18.732921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif26a has been classified as Green List (High Evidence).",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:22:09.833984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:21:44.740542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF26A",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:11:17.552919+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:10:59.916616+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:10:40.739410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:10:18.853469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:16:49.766022+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:16:49.750703+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Green List (High Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:15:51.712287+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM#\t610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:15:30.248864+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HAX1.\nTag haematological tag was added to gene: HAX1.",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:15:16.395564+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:08:14.992996+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HARS2 as ready",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:08:14.979557+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Red List (Low Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:08:09.883242+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HARS2 were changed from Perrault syndrome; autosomal recessive sensorineural hearing loss to Perrault syndrome 2, MIM# 614926",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:07:56.586574+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HARS2 as Red List (low evidence)",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:07:56.574971+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Red List (Low Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-11-29T19:07:44.918276+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:58:06.348523+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM32 as ready",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:58:06.333781+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:58:01.506712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:57:48.342994+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM32 were set to ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:57:23.953977+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM32 as Red List (low evidence)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:57:23.942425+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:56:43.847928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:56:14.836071+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:56:14.818744+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:56:10.762928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1 to Aicardi-Goutieres syndrome 1 MIM#225750",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:55:58.374239+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:55:38.088790+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TREX1 as Amber List (moderate evidence)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:55:38.076557+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:55:27.350387+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TREX1.\nTag treatable tag was added to gene: TREX1.\nTag neurological tag was added to gene: TREX1.",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:54:26.442620+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TPP1.\nTag treatable tag was added to gene: TPP1.\nTag metabolic tag was added to gene: TPP1.",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:51:39.304475+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC2 as ready",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:51:39.289591+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc2 has been classified as Red List (Low Evidence).",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:51:31.884037+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda to Spondyloepiphyseal dysplasia tarda MIM#313400",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:51:19.989692+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2 were set to ",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:51:08.683094+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC2 as Red List (low evidence)",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:51:08.669972+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc2 has been classified as Red List (Low Evidence).",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:50:41.032210+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:50:41.021188+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:50:36.083109+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:50:23.779127+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:48:37.580995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPO as ready",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:48:37.559086+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpo has been classified as Green List (High Evidence).",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:48:27.166318+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPO were changed from Thyroid dyshormonogenesis 2A to Thyroid dyshormonogenesis 2A MIM#274500",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:48:13.767853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TPO.\nTag endocrine tag was added to gene: TPO.",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:47:21.590819+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:47:21.572501+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:47:17.359281+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:47:03.741832+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HADH.\nTag metabolic tag was added to gene: HADH.",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:46:51.319448+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:44:29.906098+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GOT2 as ready",
"entity_name": "GOT2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:44:29.894317+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: got2 has been classified as Green List (High Evidence).",
"entity_name": "GOT2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:44:23.774282+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GOT2.\nTag neurological tag was added to gene: GOT2.",
"entity_name": "GOT2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:44:09.562589+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 82, MIM# 618721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOT2",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:39:48.356396+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:39:48.343096+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Red List (Low Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:39:43.849570+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:39:30.640135+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPC3 as Red List (low evidence)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:39:30.604935+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Red List (Low Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:39:16.023358+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:38:13.971960+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR143 as ready",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:38:13.959804+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr143 has been classified as Red List (Low Evidence).",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:38:06.357803+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR143 were changed from Ocular albinism, type I to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2022-11-29T18:37:53.064537+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPR143 as Red List (low evidence)",
"entity_name": "GPR143",
"entity_type": "gene"
}
]
}