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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1566",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1564",
"results": [
{
"created": "2020-09-30T12:58:00.778059+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atn1 has been removed from the panel.",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2020-09-30T12:57:15.140888+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DRPLA as ready",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2020-09-30T12:57:15.132259+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: drpla has been classified as Green List (High Evidence).",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2020-09-30T12:57:07.210202+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: DRPLA as Green List (high evidence)",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2020-09-30T12:57:07.189358+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: drpla has been classified as Green List (High Evidence).",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2020-09-30T12:56:30.552869+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DRPLA was added\nSTR: DRPLA was added to Early-onset Dementia. Sources: Expert list\nSTR tags were added to STR: DRPLA.\nMode of inheritance for STR: DRPLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DRPLA were set to 29325606; 20301664\nPhenotypes for STR: DRPLA were set to Dentatorubral-pallidoluysian atrophy MIM#125370\nReview for STR: DRPLA was set to GREEN\nSTR: DRPLA was marked as clinically relevant\nAdded comment: NM_001007026.1:c.1462_1464CAG[X] Toxic gain of function mechanism of disease Benign: ≤35 repeats Mutable normal: 20-35 repeats Pathogenic: ≥48 repeats Age <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance \nSources: Expert list",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2020-09-30T11:49:11.081680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 31077882; 19x probands reported, AD.\r\n\r\nPMID: 18642388;\r\nBPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract\r\nBPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234)\r\nExceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II\r\n\r\nNOTE: only 1 family reported for AR (PMID: 17089161); to: PMID: 31077882; >100 probands reported, AD.\r\n\r\nPMID: 18642388;\r\nBPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract\r\nBPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234)\r\nExceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II\r\n\r\nNOTE: only 1 family reported for AR (PMID: 17089161)",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:48:59.549740+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 31077882; 19x probands reported, AD.\r\n\r\nPMID: 18642388;\r\nBPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract \r\nBPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234)\r\nExceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II\r\n\r\nNOTE: only 1 family reported for AR (PMID: 17089161); to: PMID: 31077882; >100 probands reported, AD.\r\n\r\nPMID: 18642388;\r\nBPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract \r\nBPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234)\r\nExceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II\r\n\r\nNOTE: only 1 family reported for AR (PMID: 17089161)",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:41:06.771067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31077882, 18642388, 17089161; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-09-30T11:40:04.454729+10:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31077882, 18642388, 17089161; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:51:13.524461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ILDR1 as ready",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:51:13.514529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ildr1 has been classified as Green List (High Evidence).",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:51:07.136327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ILDR1 were changed from to Deafness, autosomal recessive 42, MIM# 609646",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:50:29.434779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ILDR1 were set to ",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:50:10.323322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ILDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:49:53.851625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ILDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255762, 23226338, 22903915, 27344577, 21255762, 23239027, 25822906, 25819842, 24990150; Phenotypes: Deafness, autosomal recessive 42, MIM# 609646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:48:58.505710+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ILDR1 as ready",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:48:58.494198+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ildr1 has been classified as Green List (High Evidence).",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:48:46.210446+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ILDR1 were changed from to Deafness, autosomal recessive 42, MIM# 609646",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:48:13.306017+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ILDR1 were set to ",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:25:18.266030+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ILDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:24:38.171450+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ILDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21255762, 23226338, 22903915, 27344577, 21255762, 23239027, 25822906, 25819842, 24990150; Phenotypes: Deafness, autosomal recessive 42, MIM# 609646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ILDR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:21:37.014814+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD17B4 as ready",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:21:37.000667+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd17b4 has been classified as Green List (High Evidence).",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:21:33.367524+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD17B4 were changed from to Perrault syndrome 1, MIM# 233400",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:21:08.782594+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD17B4 were set to ",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:20:36.233786+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:20:12.528599+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24553428, 23181892, 20673864; Phenotypes: Perrault syndrome 1, MIM# 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:18:05.350678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA2 as ready",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:18:05.339368+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa2 has been classified as Green List (High Evidence).",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:17:48.292991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA2 were changed from to Microtia with or without hearing impairment, MIM# 612290",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:17:26.992225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA2 were set to ",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:17:03.449159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:16:44.376655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394579, 23775976, 27503514, 32649979, 31567444; Phenotypes: Microtia with or without hearing impairment, MIM# 612290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:14:30.237025+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HOXA2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:14:19.306125+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA2 as ready",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:14:19.283048+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa2 has been classified as Green List (High Evidence).",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:14:10.059202+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA2 were changed from to Microtia with or without hearing impairment, MIM# 612290",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:13:47.960294+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA2 were set to ",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:13:22.248175+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:12:53.878663+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394579, 23775976, 27503514, 32649979, 31567444; Phenotypes: Microtia with or without hearing impairment, MIM# 612290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:39:30.873055+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRXCR1 as ready",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:39:30.862570+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr1 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:39:27.930029+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRXCR1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 25, MIM#\t613285",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:39:10.819812+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRXCR1 were set to ",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:39:00.039123+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRXCR1 as Green List (high evidence)",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:39:00.021238+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr1 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:38:48.023283+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRXCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137778, 25802247, 26226137, 26445815, 26969326, 20137774; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:38:03.022459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRXCR1 as ready",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:38:02.997912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr1 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:37:54.455508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRXCR1 were changed from to Deafness, autosomal recessive 25, MIM# 613285",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:36:49.624940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRXCR1 were set to ",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:35:48.065769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRXCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:35:30.854890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRXCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137778, 25802247, 26226137, 26445815, 26969326, 20137774; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:31:52.514183+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRXCR1 as ready",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:31:52.504549+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr1 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:31:50.389288+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRXCR1 were changed from to Deafness, autosomal recessive 25, MIM# 613285",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:31:04.411774+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRXCR1 were set to ",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:30:28.536503+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRXCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:30:00.617377+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRXCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137778, 25802247, 26226137, 26445815, 26969326, 20137774; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR1",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:20:23.849335+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPSM2: Changed publications: 20602914, 22578326, 28387217, 27180139, 27064331",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:20:09.630081+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:19:38.877327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:18:54.089782+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:18:54.077334+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:12:47.273650+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:12:25.202867+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:11:55.794886+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:11:31.286353+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:10:22.678252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:10:22.666981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:09:35.498081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:08:34.144582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:08:13.673644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:07:55.377445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:05:41.756400+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:05:41.745900+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:05:39.075903+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:05:13.354996+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:04:40.391466+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:04:16.381214+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:02:55.221172+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:02:55.200849+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:02:52.136102+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:02:19.260055+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:01:44.404909+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:01:14.999900+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:54:56.294281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIPC3 as ready",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:54:56.283029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gipc3 has been classified as Green List (High Evidence).",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:54:48.468125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIPC3 were changed from to Deafness, autosomal recessive 15, MIM# 601869",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:54:32.181697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GIPC3 were set to ",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:51:39.721483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GIPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:51:22.691037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21326233, 21660509; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:50:30.989737+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIPC3 as ready",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:50:30.980648+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gipc3 has been classified as Green List (High Evidence).",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:50:28.047807+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIPC3 were changed from to Deafness, autosomal recessive 15, MIM# 601869",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:50:10.225472+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GIPC3 were set to ",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:49:44.258875+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GIPC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:49:16.429131+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21326233, 21660509; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-09-30T08:45:53.164019+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COCH as ready",
"entity_name": "COCH",
"entity_type": "gene"
}
]
}