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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1572",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1570",
"results": [
{
"created": "2020-09-28T14:16:50.202784+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP4 as Red List (low evidence)",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:16:50.191325+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip4 has been classified as Red List (Low Evidence).",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T14:16:21.721017+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP4: Rating: RED; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:58:05.010704+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG11 as ready",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:58:04.997354+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:58:02.622562+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from to Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:57:40.496714+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG11 were set to ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:47:05.505757+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: C9orf72 as ready",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-09-28T13:47:05.497702+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-09-28T13:47:01.585514+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag STR tag was added to STR: C9orf72.",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-09-28T13:46:57.187690+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: C9orf72 as Green List (high evidence)",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-09-28T13:46:57.172878+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: c9orf72 has been classified as Green List (High Evidence).",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-09-28T13:45:34.488662+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: C9orf72 was added\nSTR: C9orf72 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: C9orf72 were set to 25577942\nPhenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: C9orf72 was set to GREEN\nSTR: C9orf72 was marked as clinically relevant\nAdded comment: NG_031977.1:g.5321GGGGCC[X]\r\nRepeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation\r\nNormal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal\r\nPathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic\r\nNote: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list",
"entity_name": "C9orf72",
"entity_type": "str"
},
{
"created": "2020-09-28T13:37:11.120011+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:36:47.167762+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20110243; Phenotypes: Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:33:32.290496+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHG5 as ready",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:33:32.279316+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhg5 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:33:29.994198+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHG5 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:33:03.583985+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLEKHG5 were set to ",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:32:42.265594+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:32:20.788305+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHG5 as Red List (low evidence)",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:32:20.779885+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhg5 has been classified as Red List (Low Evidence).",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:25:09.484092+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHG5: Rating: RED; Mode of pathogenicity: None; Publications: 17564964; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLEKHG5",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:19:48.108276+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAS1L were changed from Wilson-Turner syndrome, MIM# 309585 to congenital lethal motor neuron disease",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:19:18.346950+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAS1L: Changed phenotypes: congenital lethal motor neuron disease",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:14:23.927520+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:13:58.693058+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAS1L: Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:13:32.544319+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAS1L as ready",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:13:32.534417+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: las1l has been classified as Red List (Low Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:13:27.691182+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:12:59.853302+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAS1L were set to ",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:12:37.606462+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:12:09.237710+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAS1L as Red List (low evidence)",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:12:09.227056+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: las1l has been classified as Red List (Low Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T13:11:40.586174+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: None; Publications: 24647030; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T10:59:25.252921+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.53",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32342993; Phenotypes: Autosomal recessive limb-girdle muscular dystrophy 1 (MIM#253600), Autosomal dominant limb-girdle muscular dystrophy 4 (MIM#618129); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-09-28T10:38:16.463950+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHMBP2 as ready",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T10:38:16.455156+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Green List (High Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T10:38:00.049763+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGHMBP2 were changed from to Neuronopathy, distal hereditary motor, type VI 604320",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T10:37:31.487384+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IGHMBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T10:37:06.800781+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI 604320; Mode of inheritance: None",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:35:33.263962+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC9 as ready",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:35:33.255718+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:35:28.138765+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC9 as Green List (high evidence)",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:35:28.127420+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:35:19.509483+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC9 was added\ngene: EXOSC9 was added to Hereditary Neuropathy - complex. Sources: Expert Review\nMode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC9 were set to 30690203; 29727687\nPhenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, MIM# 618065\nReview for gene: EXOSC9 was set to GREEN\nAdded comment: Six unrelated families reported, p.Leu14Pro variant is recurrent, disorder combines cerebellar atrophy and spinal motoneuronopathy. \nSources: Expert Review",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:53.893560+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC8 were changed from dHMN/dSMA; Pontocerebellar hypoplasia, type 1c to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c, MIM# 616081",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:43.876414+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC8 were set to ",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:34.817078+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC8 as Green List (high evidence)",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:34.805653+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc8 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:24.421619+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:16.446844+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: EXOSC8: Panel is both paediatric and adult, condition has an SMA component in addition to the PCH.",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:33:16.353309+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:31:12.879295+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:30:57.913800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC9 as ready",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:30:57.903361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc9 has been classified as Green List (High Evidence).",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:30:49.871582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC9 were changed from to Pontocerebellar hypoplasia, type 1D, MIM# 618065",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:30:33.614057+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXOSC9 were set to ",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:30:18.324321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:29:56.727045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690203, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, MIM# 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC9",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:13:52.505284+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: INS was added\ngene: INS was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life\nReview for gene: INS was set to GREEN\nAdded comment: Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Not assessed by Babyseq, included in NC NEXUS list. \nSources: Expert list",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:08:01.596386+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:07:36.267893+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: van der Woude syndrome MIM# 119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-28T09:05:15.880451+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18434651, 18765512, 30240412; Phenotypes: Thyroid dyshormonogenesis 4 MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:34:00.824896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A14 as ready",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:34:00.808580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a14 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:33:54.064940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A14 were changed from to Retinitis pigmentosa 68, MIM# MIM#615725",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:33:35.775880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC7A14 were set to ",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:33:17.139924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC7A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:33:01.127111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A14 as Red List (low evidence)",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:33:01.113746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a14 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:32:44.717011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SLC7A14.",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:32:28.022160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: None; Publications: 31921845, 30924391, 24670872; Phenotypes: Retinitis pigmentosa 68, MIM# MIM#615725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:30:32.520198+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SLC7A14.",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:25:18.686440+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A14 as ready",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:25:18.674127+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a14 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A14",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:25:00.818173+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADIPOR1 as ready",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:25:00.802798+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adipor1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADIPOR1",
"entity_type": "gene"
},
{
"created": "2020-09-26T17:24:00.083168+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Autosomal Recessive/X-Linked Retinitis Pigmentosa to Retinitis pigmentosa_Autosomal Recessive/X-linked",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-26T14:00:56.488432+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRB as ready",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T14:00:56.474380+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thrb has been classified as Green List (High Evidence).",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T14:00:53.764199+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THRB were changed from Thyroid Hormone Resistance, Selective Pituitary; 145650; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; thyroid hormone unresponsiveness, generalized RTH, RTH beta; THYROID HORMONE UNRESPONSIVENESS; REFETOFF SYNDROME; Refetoff syndrome; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; PRTH; Thyroid hormone resistance, selective pituitary, 145650; GRTH; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Resistance to thyroid hormone (RTH); Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300; Thyroid Hormone Resistance (monoallelic); HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES to Thyroid hormone resistance, MIM#\t188570; Thyroid hormone resistance, autosomal recessive, MIM#\t274300; Thyroid hormone resistance, selective pituitary, MIM#\t145650",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T13:59:22.199065+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THRB were set to 24847459",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T13:59:09.969360+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: THRB was changed from to Other",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T13:59:04.030166+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THRB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T13:11:22.505528+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.4",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 27381958, 24847459, 27144938; Phenotypes: #190120 THYROID HORMONE RECEPTOR, ALPHA-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-26T12:44:22.150358+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.4",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Monoallelic variants in THRB can cause a dominant negative effect as the altered receptor inhibits the function of the wild-type thyroid hormone receptor (THR) β. This can lead to elevated thyroid hormone signaling through THRα\r\nreceptors.\r\n\r\nDiagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management.\r\n\r\nDifferent variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes. \r\n\r\nBiallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα.; to: Monoallelic variants in THRB can cause a dominant negative effect due to an altered thyroid hormone receptor (THR) β inhibiting the function of the wild-type THRβ. This can lead to elevated thyroid hormone signaling through THRα receptors.\r\n\r\nDiagnosis of this familial euthyroid hyperthyroxinemia is important to avoid unnecessary medical or surgical treatment and may impact on pregnancy management.\r\n\r\nDifferent variants can have varying effects on THRβ function and THRβ expression varies among organs, which is thought to make the genotype and phenotype relationship unclear. There is overlap between the previously subcategorised peripheral, isolated pituitary and generalised phenotypes. \r\n\r\nBiallelic variants cause a more severe phenotype including hearing impairment (consider adding THRB to hearing loss panel). A speculated mechanism in this condition is dominant-negative effect of mutant THRβ on wild-type THRα.",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T12:23:51.724338+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.4",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25135573, 31590893; Phenotypes: #188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, #274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE, #145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-09-26T11:31:27.884971+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTR as ready",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-26T11:31:27.869350+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttr has been classified as Green List (High Evidence).",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-26T11:31:22.491203+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTR were set to 31590893; 26522458",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-26T11:30:19.541709+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "edited their review of gene: ALB: Added comment: Gain of function mechanism.\r\nSpecific variants in ALB cause increased binding affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment.\r\n\r\nAllelic conditions:\r\n#616000 ANALBUMINEMIA; ANALBA\r\nBiallelic loss of function variants cause very low amounts of circulating serum albumin.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-26T11:30:02.439305+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia, [Dysalbuminemic hyperthyroxinemia], 615999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-26T11:27:01.376253+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31590893, 26522458, 8784093; Phenotypes: # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC, DTTRH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-09-26T10:46:51.342425+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-26T10:38:19.089917+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.3",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "changed review comment from: Gain-of-function mechanism.\r\nIndividuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones.\r\n\r\nThe allelic condition Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants.; to: Gain-of-function mechanism.\r\nIndividuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones.\r\n\r\nThe allelic condition Analbuminemia (ANALBUMINEMIA; ANALBA OMIM#616000) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants. ",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:27:49.873723+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAPER as ready",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:27:49.865629+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Red List (Low Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:27:37.028896+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCAPER were set to 28794130; 31069901; 31192531; 30723319",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-09-25T20:21:08.365450+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
}
]
}