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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1558",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1556",
"results": [
{
"created": "2020-10-05T08:17:48.332165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GREB1L were changed from to Renal hypodysplasia/aplasia 3, OMIM# 617805",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:17:33.275540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GREB1L were set to ",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:17:17.221681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GREB1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:17:00.302614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:10:31.193051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RAP as ready",
"entity_name": "IL1RAP",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:10:31.178316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rap has been classified as Red List (Low Evidence).",
"entity_name": "IL1RAP",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:10:21.390037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RAP was added\ngene: IL1RAP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IL1RAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL1RAP were set to 31954058\nPhenotypes for gene: IL1RAP were set to Steroid-sensitive nephrotic syndrome\nReview for gene: IL1RAP was set to RED\nAdded comment: A pair of siblings with compound heterozygous variants in this gene and steroid-sensitive nephrotic syndrome. Functional effect of variants demonstrated but mouse model does not have proteinuria. \nSources: Literature",
"entity_name": "IL1RAP",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:08:49.537815+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RAP as ready",
"entity_name": "IL1RAP",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:08:49.525627+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rap has been classified as Red List (Low Evidence).",
"entity_name": "IL1RAP",
"entity_type": "gene"
},
{
"created": "2020-10-05T08:08:42.194011+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RAP was added\ngene: IL1RAP was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: IL1RAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL1RAP were set to 31954058\nPhenotypes for gene: IL1RAP were set to Steroid-sensitive nephrotic syndrome\nReview for gene: IL1RAP was set to RED\nAdded comment: A pair of siblings with compound heterozygous variants in this gene and steroid-sensitive nephrotic syndrome. Functional effect of variants demonstrated but mouse model does not have proteinuria. \nSources: Literature",
"entity_name": "IL1RAP",
"entity_type": "gene"
},
{
"created": "2020-10-05T07:59:28.148133+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAT1 were set to 30862798; 26905694",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-10-05T07:58:55.908098+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Another 5 families reported.; to: Another 5 families reported with syndromic proteinuria.",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-10-05T07:58:24.339308+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAT1: Added comment: PMID 32902815: bi-allelic variants in association with proteinuria and no syndromic features reported.; Changed publications: 30862798, 32902815",
"entity_name": "FAT1",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:06:05.741746+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRRT2 as ready",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:06:05.732362+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:06:02.675526+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:05:45.789933+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRT2 were set to 22101681; 22744660; 31124310; 26561923",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:05:16.077789+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRRT2 as Amber List (moderate evidence)",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:05:16.067568+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:04:09.263070+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24928127; Phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200, Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:01:49.210543+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRRT2 were set to ",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:01:16.653257+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:00:40.601945+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-10-04T20:00:40.591263+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:56:34.775087+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:56:34.765997+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:56:31.960132+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:56:05.707301+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to ",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:55:39.506229+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:55:10.121687+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22842232, 22850527, 24842602; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:52:46.346785+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:52:46.332893+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:52:35.354043+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:52:11.458088+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to ",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:51:49.982276+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-10-04T19:51:22.509508+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24097848, 21352219, 17435187, 15286158; Phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-10-04T18:24:22.031833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRAS were set to 28289718",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-10-04T18:24:03.504112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRAS were changed from Noonan syndrome to Noonan syndrome 11, MIM#618499",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-10-04T18:23:44.929570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRAS: Changed phenotypes: Noonan syndrome 11, MIM#618499",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-10-04T18:23:30.985924+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRAS were set to 28289718",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-10-04T18:23:00.427326+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRAS were changed from Noonan syndrome to Noonan syndrome 11, MIM#618499",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-10-04T18:22:35.499565+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRAS: Changed phenotypes: Noonan syndrome 11, MIM#618499",
"entity_name": "MRAS",
"entity_type": "gene"
},
{
"created": "2020-10-04T11:57:07.803485+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Amber List (moderate evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-10-04T11:57:07.792393+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-10-04T11:56:40.279078+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least three unrelated families reported. \nSources: Expert list; to: At least three unrelated families reported, two of the individuals had the same homozygous variant. Note that one of the articles has been retracted due to some of the data having been falsified.\r\nSources: Expert list",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-10-04T11:56:12.977726+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BLOC1S6: Changed rating: AMBER; Changed phenotypes: Hermansky-pudlak syndrome 9, MIM# 614171",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-10-04T09:02:07.618396+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T09:01:53.851243+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration. \nSources: Literature; to: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration. \r\n\r\nSingle individual with de novo variant reported, postulated dominant negative effect. Evidence for mono allelic variants causing disease is limited.\r\nSources: Literature",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T09:01:45.148244+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T09:01:24.872881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T09:00:55.555540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration. \nSources: Literature; to: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.\r\n\r\nSingle individual with de novo variant reported, postulated dominant negative effect. Evidence for mono allelic variants causing disease is limited.\r\nSources: Literature",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T09:00:11.417071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T08:59:28.331146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T08:58:34.984198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T07:32:39.675509+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3053",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variant were on the same allele, as phase was not determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).; to: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variant were on the same allele, as phase was not determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides produced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration in mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T07:29:45.415855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3053",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variants were on the same allele, as phase was not been determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).; to: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variant were on the same allele, as phase was not determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T07:28:57.694075+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3053",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could be ruled out that the de novo and maternally inherited variants were on the same allele, as phase was not been determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).; to: Biallelic (and possibly monoallelic) pathogenic variants in this gene are associated with DD/ID.\r\n\r\nMartin et al (2020 - PMID:32934225) report on 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. (In one of these 8 cases it could not be ruled out that a de novo and maternally inherited variants were on the same allele, as phase was not been determined). A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event (due to a speculated dominant-negative effect). This individual had a similar presentation. \r\n\r\nFeatures incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M) ), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). \r\n\r\nNEMF (Rqc2 in yeast) encodes the nuclear export mediator factor, a component of the Ribosome-associated Quality Control (RCQ) complex which is involved in proteolytic targeting of incomplete polypeptides prodduced by ribosome stalling. NEMF facilitates the recruitment of E3 ligase Listerin (LTN1) which ubiquitinates nascent polypeptide chains for subsequent proteasomal degradation.\r\n\r\nThe author provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration. A further NEMF-null mouse model displayed more severe phenotype (with heterozygous mice being unaffected).\r\n\r\nEquivalent mutations (of those in the above mouse model) in yeast (Rqc2) were shown to interfere with its ability to modify aberrant translation products with C-terminal tails which assist RQC-mediated protein degradation.\r\n\r\nMutation of Ltn1 (belonging to the same protein control pathway) has been also shown to lead to neurodegeneration im mice.\r\n\r\nOverall NEMF is thought to play a role in neuronal translational homeostasis and the disorder to be mediated by dysfunction of the RQC pathway (normally protecting neurons against degeneration).",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-04T07:27:49.272296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3053",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: NEMF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32934225; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NEMF",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:35:51.315949+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM43 as ready",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:35:51.301115+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem43 has been classified as Green List (High Evidence).",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:35:48.677933+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:35:27.726289+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM43 were set to ",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:35:01.477344+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:34:38.207504+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313022, 21214875, 23812740, 22725725, 24598986, 29980933; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:31:54.406500+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSP as ready",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:31:54.394703+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Green List (High Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:31:50.798929+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:31:22.589262+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSP were set to ",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:30:58.472033+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-10-03T19:30:28.133201+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-10-03T18:28:54.747433+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSC2 as ready",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-10-03T18:28:54.735134+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsc2 has been classified as Green List (High Evidence).",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-10-03T18:28:51.933390+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-10-03T18:28:07.792977+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSC2 were set to ",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-10-03T18:27:42.381388+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-10-03T18:27:17.398631+10:00",
"panel_name": "Arrhythmogenic Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17963498, 21062920, 23863954, 17186466, 18957847, 17033975, 28339476; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:47:29.601719+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787",
"entity_name": "PLS1",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:47:06.284118+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLS1: Changed phenotypes: Deafness, autosomal dominant 76, MIM# 618787",
"entity_name": "PLS1",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:46:46.808487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76, MIM# 618787",
"entity_name": "PLS1",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:46:28.962645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLS1: Changed phenotypes: Deafness, autosomal dominant 76, MIM# 618787",
"entity_name": "PLS1",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:30:38.116249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOMER2 as ready",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:30:38.107449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: homer2 has been classified as Green List (High Evidence).",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:30:29.585771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOMER2 were changed from to Deafness, autosomal dominant 68, MIM# 616707",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:30:14.154740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOMER2 were set to ",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:29:55.363141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOMER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:29:37.507006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOMER2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25816005, 30047143, 25816005; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:28:29.642717+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOMER2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:28:15.060327+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOMER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T17:27:47.499188+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HOMER2: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:50.040213+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH1G as ready",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:50.025925+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush1g has been classified as Green List (High Evidence).",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:33.043581+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH1C were set to ",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:17.390303+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:17.376753+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:13.536562+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to ",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:44:01.607197+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27302843, 32866347, 31884617, 29676688, 26387595; Phenotypes: Heimler syndrome 2, MIM# 616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:41:09.107539+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP250 as ready",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:41:09.099059+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep250 has been classified as Green List (High Evidence).",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:41:05.276893+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP250 as Green List (high evidence)",
"entity_name": "CEP250",
"entity_type": "gene"
},
{
"created": "2020-10-03T14:41:05.265227+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep250 has been classified as Green List (High Evidence).",
"entity_name": "CEP250",
"entity_type": "gene"
}
]
}