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{
    "count": 175306,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
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    "results": [
        {
            "created": "2021-10-18T11:15:44.175866Z",
            "panel_name": "Rare multisystem ciliopathy disorders",
            "panel_id": 150,
            "panel_version": "1.148",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: TBC1D32 as Green List (high evidence)",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:15:44.164583Z",
            "panel_name": "Rare multisystem ciliopathy disorders",
            "panel_id": 150,
            "panel_version": "1.148",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:14:46.936705Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.93",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q3_21_rating tag was added to gene: TBC1D32.",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:13:43.795699Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.93",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Entity copied from Rare multisystem ciliopathy disorders v1.147",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:13:43.736433Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.93",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Malformations of cortical development. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Amber\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566\nPhenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome, MONDO:0015375\nPenetrance for gene: TBC1D32 were set to Complete",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:12:19.261562Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.25",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q3_21_rating tag was added to gene: TBC1D32.",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:11:26.575967Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.25",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: TBC1D32 were changed from No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) to Orofaciodigital syndrome, MONDO:0015375",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:10:09.924456Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.24",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: TBC1D32 were set to ",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:09:55.469892Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.23",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: TBC1D32 as Amber List (moderate evidence)",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:09:55.464912Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.23",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with Ciliopathy syndrome in Gene2Phenotype (possible) but not a phenotype in OMIM. There is enough evidence for this gene to be Green. \r\n\r\nGreen review from Rhiannon Mellis (Great Ormond Street Hospital) on the Rare multisystem ciliopathy disorders panel (ID: 150):\r\n\r\n\"The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype:\r\n\r\n    - One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs\r\n    - The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet\r\n\r\n    - There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly\r\n    Created: 6 Oct 2020, 3:14 p.m. | Last Modified: 6 Oct 2020, 3:14 p.m.\r\n    Panel Version: 1.129\r\n\r\nMode of inheritance\r\nBIALLELIC, autosomal or pseudoautosomal\r\n\r\nPhenotypes\r\nOFD IX\r\n\r\nPublications\r\n\r\n    PMID: 32573025\r\n    31130284\r\n    32060556\"",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:09:55.421026Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.23",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:03:40.117836Z",
            "panel_name": "Hydrocephalus",
            "panel_id": 179,
            "panel_version": "2.120",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: TBC1D32.",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:03:01.586694Z",
            "panel_name": "Hydrocephalus",
            "panel_id": 179,
            "panel_version": "2.120",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Entity copied from Rare multisystem ciliopathy disorders v1.147",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:03:01.545774Z",
            "panel_name": "Hydrocephalus",
            "panel_id": 179,
            "panel_version": "2.120",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Hydrocephalus. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566\nPhenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome, MONDO:0015375\nPenetrance for gene: TBC1D32 were set to Complete",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:01:08.966714Z",
            "panel_name": "Rare multisystem ciliopathy disorders",
            "panel_id": 150,
            "panel_version": "1.147",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: TBC1D32 as Amber List (moderate evidence)",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:01:08.963471Z",
            "panel_name": "Rare multisystem ciliopathy disorders",
            "panel_id": 150,
            "panel_version": "1.147",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoted from Red to Green. This gene is associated with Ciliopathy syndrome in Gene2Phenotype (possible) but not a phenotype in OMIM. There is enough evidence for this gene to be Green.",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T11:01:08.925604Z",
            "panel_name": "Rare multisystem ciliopathy disorders",
            "panel_id": 150,
            "panel_version": "1.147",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "TBC1D32",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:56:21.738207Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.241",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
            "entity_name": "B4GAT1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:55:13.688198Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.241",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: B4GAT1 were set to 23359570",
            "entity_name": "B4GAT1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:54:49.269241Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.240",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q3_21_rating tag was added to gene: B4GAT1.",
            "entity_name": "B4GAT1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:54:33.753456Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.90",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "reviewed gene: B4GAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
            "entity_name": "B4GAT1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:52:34.975444Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.90",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: B4GAT1 were set to ",
            "entity_name": "B4GAT1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:48:13.115191Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.222",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "edited their review of gene: ARL3: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype (possible - RP, and probable - Joubert syndrome). There is enough evidence to support a gene-disease association for both MOIs. This gene should be rated as Green at the next review.; Changed rating: GREEN",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:46:59.532850Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.222",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: ARL3.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:46:51.265880Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.222",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: ARL3 was changed from  to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:46:45.571683Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.221",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: ARL3 were changed from  to Joubert syndrome 35, OMIM:61816; cone-rod dystrophy, MONDO:0015993; Retinitis pigmentosa 83, OMIM:618173",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:46:17.610461Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.220",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on publications: PMID:30269812 describes 2 unrelated consanguineous families (Saudi and Pakistani). Both have phenotype resembling Joubert syndrome (night blindness, rod-cone dystrophy, mild dysmorphic features, hypotonia (only in 1 family), ataxia, cerebellar vernis hypoplasia). Both are homozygous missense for the same amino acid residue (R149C, R149H). The authors performed some in vitro functional analysis.\r\n\r\nPMID:16565502 describes a knockout mouse model of Arl3. The homozygous knockouts developed ciliary disease affecting kidney, biliary tract, pancreas and retina. However, there was no mention of a brain phenotype.\r\n\r\nPMID:31743939 describes 2 large consanguineous Pakastani families with the same homozygous variant (Arg99Ile). There are 8 affected individuals in total and 7/8 had cone-rod dystrophy and no features of Joubert syndrome.\r\n\r\nPMID:33748123 describes a Chinese family. Proband is compound het (c.91A>G, p.T31A; c.353G>T, p.C118F) and has retinal dystrophy. Heterozygous father has late onset and mild rode-cone dystrophy. Mother and sister (het) are normal. All family members did not have any other phenotypes.\r\n\r\nPMID:26964041 describes a family with affected mother, son and daughter with retinitis pigmentosa. Affected patients were heterozygosity for Y90C. The mother's parents do not have the variant suggesting that it is a de novo event in the mother. No functional studies of the variant were performed.\r\n\r\nPMID:30932721 reports a case where a patient has a de novo Y90C variant and has RP.\r\n\r\nPMID:34485303 reports a heterozygous Asp67Val variant segregating in an Ashkenazi Jewish family with a dominant inherited retinal degenerations.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:46:17.594330Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "2.220",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: ARL3 were set to ",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:43:57.724791Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.22",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on mode of inheritance: MOI changed from Biallelic to Both monoallelic and biallelic as eye phenotype is seen for both MOIs.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:43:57.713617Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.22",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: ARL3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:43:19.979966Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.21",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: ARL3 were changed from Joubert syndrome 35, OMIM:61816 to Joubert syndrome 35, OMIM:61816; cone-rod dystrophy, MONDO:0015993; Retinitis pigmentosa 83, OMIM:618173",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:40:42.238752Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.20",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag watchlist was removed from gene: ARL3.\nTag Q4_21_rating tag was added to gene: ARL3.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:35:50.807034Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.20",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Entity copied from Neurological ciliopathies v1.20",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:35:50.677205Z",
            "panel_name": "Ophthalmological ciliopathies",
            "panel_id": 722,
            "panel_version": "1.20",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "gene: ARL3 was added\ngene: ARL3 was added to Ophthalmological ciliopathies. Sources: Expert list,Expert Review Amber\nwatchlist tags were added to gene: ARL3.\nMode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502; 33748123; 31743939; 26964041; 30932721; 34485303\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:61816",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:32:47.263538Z",
            "panel_name": "Neurological ciliopathies",
            "panel_id": 724,
            "panel_version": "1.20",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: ARL3 as Amber List (moderate evidence)",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:32:47.260721Z",
            "panel_name": "Neurological ciliopathies",
            "panel_id": 724,
            "panel_version": "1.20",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene submitted by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (possible - RP, and probable - Joubert syndrome).\r\n\r\nAs there are only 2 cases that have been associated with Joubert syndrome (PMID:30269812) and the knockout mouse model does not appear to have a neurological phenotype (PMID:16565502) this gene has been given an Amber rating until further evidence is available.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:32:47.246079Z",
            "panel_name": "Neurological ciliopathies",
            "panel_id": 724,
            "panel_version": "1.20",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: arl3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:29:47.386337Z",
            "panel_name": "Neurological ciliopathies",
            "panel_id": 724,
            "panel_version": "1.19",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag watchlist tag was added to gene: ARL3.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:29:33.320965Z",
            "panel_name": "Neurological ciliopathies",
            "panel_id": 724,
            "panel_version": "1.19",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on publications: PMID:30269812 describes 2 unrelated consanguineous families (Saudi and Pakistani). Both have phenotype resembling Joubert syndrome (night blindness, rod-cone dystrophy, mild dysmorphic features, hypotonia (only in 1 family), ataxia, cerebellar vernis hypoplasia). Both are homozygous missense for the same amino acid residue (R149C, R149H). The authors performed some in vitro functional analysis.\r\n\r\nPMID:16565502 describes a knockout mouse model of Arl3. The homozygous knockouts developed ciliary disease affecting kidney, biliary tract, pancreas and retina. However, there was no mention of a brain phenotype.\r\n\r\nPMID:31743939 describes 2 large consanguineous Pakastani families with the same homozygous variant (Arg99Ile). There are 8 affected individuals in total and 7/8 had cone-rod dystrophy and no features of Joubert syndrome.\r\n\r\nPMID:33748123 describes a Chinese family. Proband is compound het (c.91A>G, p.T31A; c.353G>T, p.C118F) and has retinal dystrophy. Heterozygous father has late onset and mild rode-cone dystrophy. Mother and sister (het) are normal. All family members did not have any other phenotypes.\r\n\r\nPMID:26964041 describes a family with affected mother, son and daughter with retinitis pigmentosa. Affected patients were heterozygosity for Y90C. The mother's parents do not have the variant suggesting that it is a de novo event in the mother. No functional studies of the variant were performed.\r\n\r\nPMID:30932721 reports a case where a patient has a de novo Y90C variant and has RP.\r\n\r\nPMID:34485303 reports a heterozygous Asp67Val variant segregating in an Ashkenazi Jewish family with a dominant inherited retinal degenerations.",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:29:33.299847Z",
            "panel_name": "Neurological ciliopathies",
            "panel_id": 724,
            "panel_version": "1.19",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Publications for gene: ARL3 were set to 30269812; 16565502",
            "entity_name": "ARL3",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:28:26.740611Z",
            "panel_name": "Adult onset movement disorder",
            "panel_id": 540,
            "panel_version": "1.124",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 304340; Dystonia to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:28:12.414133Z",
            "panel_name": "Neurodegenerative disorders - adult onset",
            "panel_id": 474,
            "panel_version": "2.201",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:26:49.411955Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.89",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 OMIM:304340; syndromic X-linked intellectual disability 5 MONDO:0010574 to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:26:30.212340Z",
            "panel_name": "Intracerebral calcification disorders",
            "panel_id": 315,
            "panel_version": "1.29",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia to Pettigrew syndrome, OMIM:304340; Calcifications in basal ganglia",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:26:14.168553Z",
            "panel_name": "Hereditary ataxia",
            "panel_id": 20,
            "panel_version": "1.245",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:25:59.097389Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.240",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:25:55.969111Z",
            "panel_name": "White matter disorders and cerebral calcification - narrow panel",
            "panel_id": 476,
            "panel_version": "1.207",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340; Calcifications in basal ganglia",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:25:38.736632Z",
            "panel_name": "Childhood onset dystonia or chorea or related movement disorder",
            "panel_id": 847,
            "panel_version": "1.158",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340; Dystonia",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:25:38.079313Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1368",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic, Fried type, 300630; MENTAL RETARDATION X-LINKED TYPE 59 (MRX59) to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:24:27.683114Z",
            "panel_name": "Structural basal ganglia disorders",
            "panel_id": 180,
            "panel_version": "1.20",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 304340 to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T10:23:45.444799Z",
            "panel_name": "Hydrocephalus",
            "panel_id": 179,
            "panel_version": "2.119",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, OMIM:304340 to Pettigrew syndrome, OMIM:304340",
            "entity_name": "AP1S2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T09:06:24.828317Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.18",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "commented on gene: MYMK",
            "entity_name": "MYMK",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T09:05:53.034726Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.18",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q3_21_expert_review tag was added to gene: MYMK.\nTag Q3_21_phenotype tag was added to gene: MYMK.",
            "entity_name": "MYMK",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:55:25.137680Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.86",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.\r\n\r\nPMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.\r\n\r\nThere is enough evidence to support a gene-disease association. This gene should be Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.\r\n\r\nPMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.\r\n\r\nCurrently there is uncertain clinical relevance of this gene to growth failure phenotype. Therefore, this gene has been given an Amber rating until more evidence is available.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:54:33.687342Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.86",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating was removed from gene: GGPS1.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:54:01.033443Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.51",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: GGPS1 as Green List (high evidence)",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:54:01.030785Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.51",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoted from Amber to Green according to my previous review.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:54:01.015016Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.51",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: ggps1 has been classified as Green List (High Evidence).",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:53:31.355038Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.50",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.\r\n\r\nPMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.\r\n\r\nThere is enough evidence to support a gene-disease association. This gene should be Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.\r\n\r\nPMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.\r\n\r\nThere is enough evidence to support a gene-disease association. This gene has been given a Green rating.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:53:14.117126Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.50",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating was removed from gene: GGPS1.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:49:36.473006Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.50",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Entity copied from Congenital muscular dystrophy v2.18",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:49:36.436674Z",
            "panel_name": "Primary ovarian insufficiency",
            "panel_id": 155,
            "panel_version": "1.50",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "gene: GGPS1 was added\ngene: GGPS1 was added to Primary ovarian insufficiency. Sources: Literature,Expert Review Amber\nQ4_21_rating tags were added to gene: GGPS1.\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:49:36.270567Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.86",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Entity copied from Congenital muscular dystrophy v2.18",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:49:36.243420Z",
            "panel_name": "Growth failure in early childhood",
            "panel_id": 473,
            "panel_version": "1.86",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "gene: GGPS1 was added\ngene: GGPS1 was added to Growth failure in early childhood. Sources: Literature,Expert Review Amber\nQ4_21_rating tags were added to gene: GGPS1.\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:49:36.026069Z",
            "panel_name": "Hearing loss",
            "panel_id": 126,
            "panel_version": "2.200",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Entity copied from Congenital muscular dystrophy v2.18",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:49:35.598107Z",
            "panel_name": "Hearing loss",
            "panel_id": 126,
            "panel_version": "2.200",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "gene: GGPS1 was added\ngene: GGPS1 was added to Hearing loss. Sources: Literature,Expert Review Amber\nQ4_21_rating tags were added to gene: GGPS1.\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:48:43.399040Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.18",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: GGPS1.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:46:22.096011Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.18",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: GGPS1 as Amber List (moderate evidence)",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:46:22.092960Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.18",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype.\r\n\r\nPMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature.\r\n\r\nThere is enough evidence to support a gene-disease association. This gene should be Green at the next review.",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:46:22.070636Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.18",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: ggps1 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:43:14.537003Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "2.17",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518",
            "entity_name": "GGPS1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:03:03.905924Z",
            "panel_name": "Cardiomyopathies - including childhood onset",
            "panel_id": 749,
            "panel_version": "1.57",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: GSN as Amber List (moderate evidence)",
            "entity_name": "GSN",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:03:03.903113Z",
            "panel_name": "Cardiomyopathies - including childhood onset",
            "panel_id": 749,
            "panel_version": "1.57",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype.\r\n\r\nPMID: 26339870 found that 12/227 patients had cardiomyopathy and previous case reports and publications show that cardiomyopathy is only present in some cases and the age of diagnosis (or when pacemakers were implants into patients) is >50 years. Cardiomyopathy does not appear to be a presenting feature.\r\n\r\nTherefore, this gene has been given an Amber rating.",
            "entity_name": "GSN",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-18T08:03:03.876769Z",
            "panel_name": "Cardiomyopathies - including childhood onset",
            "panel_id": 749,
            "panel_version": "1.57",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: gsn has been classified as Amber List (Moderate Evidence).",
            "entity_name": "GSN",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-16T13:48:17.286671Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1367",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Intellectual disability. Sources: Literature\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to PMID: 33875846\nPhenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy\nPenetrance for gene: BLOC1S1 were set to unknown\nReview for gene: BLOC1S1 was set to GREEN\nAdded comment: 4 cases with similar phenotype and inheritance reported \nSources: Literature",
            "entity_name": "BLOC1S1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-16T13:36:14.982806Z",
            "panel_name": "Rhabdomyolysis and metabolic muscle disorders",
            "panel_id": 66,
            "panel_version": "1.57",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: MYH1 was added\ngene: MYH1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature\nMode of inheritance for gene: MYH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH1 were set to PMID: 33755318\nPhenotypes for gene: MYH1 were set to Rhabdomyolysis\nPenetrance for gene: MYH1 were set to unknown\nMode of pathogenicity for gene: MYH1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: MYH1 was set to AMBER\nAdded comment: One patient reported with some statistical evidence and known horse \"model\" with same phenotype. \nSources: Literature",
            "entity_name": "MYH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-16T12:54:55.462319Z",
            "panel_name": "Fetal hydrops",
            "panel_id": 144,
            "panel_version": "1.35",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: EHBP1L1 was added\ngene: EHBP1L1 was added to Fetal hydrops. Sources: Literature\nMode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHBP1L1 were set to PMID: 34645488\nPhenotypes for gene: EHBP1L1 were set to Non immune hydrops\nPenetrance for gene: EHBP1L1 were set to unknown\nReview for gene: EHBP1L1 was set to GREEN\nAdded comment: 2 families with confirming mouse data \nSources: Literature",
            "entity_name": "EHBP1L1",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-16T12:44:48.059047Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1367",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: FAAH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34645488; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "entity_name": "FAAH2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T14:02:55.688687Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1367",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Biallelic' only. Mild cognitive impairment has been reported in some patients with CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are also associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes include ID. There is also controversy regarding any link between CLCN2 and epilepsy.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T14:02:55.665187Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1367",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:57:47.395286Z",
            "panel_name": "Genetic epilepsy syndromes",
            "panel_id": 402,
            "panel_version": "2.448",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628; {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:56:58.605656Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1366",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:56:27.223700Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1365",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: CLCN2 were set to 23707145; 19191339",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:55:35.769127Z",
            "panel_name": "Genetic epilepsy syndromes",
            "panel_id": 402,
            "panel_version": "2.447",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Monoallelic' only. Seizures have been linked with monoallelic variants (MIM# 607628) although there is debate regarding this gene-disease relationship, hence the current Red rating on this panel. Autosomal recessive pathogenic variants are also associated with Leukoencephalopathy (MIM# 615651) which does not include epilepsy.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:55:35.743408Z",
            "panel_name": "Genetic epilepsy syndromes",
            "panel_id": 402,
            "panel_version": "2.447",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:42:57.982752Z",
            "panel_name": "Neurodegenerative disorders - adult onset",
            "panel_id": 474,
            "panel_version": "2.200",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on mode of inheritance: MOI should be changed from 'Both mono- and biallelic' to 'Biallelic' only. Features of neurodegeneration are seen in CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes are relevant to this panel.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:42:57.956542Z",
            "panel_name": "Neurodegenerative disorders - adult onset",
            "panel_id": 474,
            "panel_version": "2.200",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:39:18.909202Z",
            "panel_name": "Neurodegenerative disorders - adult onset",
            "panel_id": 474,
            "panel_version": "2.199",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628; Leukoencephalopathy with ataxia, OMIM:615651 to Leukoencephalopathy with ataxia, OMIM:615651",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:39:08.506525Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.88",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:39:04.505116Z",
            "panel_name": "Hereditary ataxia",
            "panel_id": 20,
            "panel_version": "1.244",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, OMIM:615651",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:38:43.142786Z",
            "panel_name": "Neurodegenerative disorders - adult onset",
            "panel_id": 474,
            "panel_version": "2.198",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: CLCN2 were set to 19191339; 23707145",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:38:31.088412Z",
            "panel_name": "Neurodegenerative disorders - adult onset",
            "panel_id": 474,
            "panel_version": "2.197",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Tag Q4_21_MOI tag was added to gene: CLCN2.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T13:34:06.024932Z",
            "panel_name": "Familial Meniere Disease",
            "panel_id": 394,
            "panel_version": "1.1",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "reviewed gene: AQP6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
            "entity_name": "AQP6",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T12:34:25.938400Z",
            "panel_name": "Familial Meniere Disease",
            "panel_id": 394,
            "panel_version": "1.1",
            "user_name": "Eldar Dedic",
            "item_type": "entity",
            "text": "reviewed gene: AQP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
            "entity_name": "AQP5",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T10:48:20.213233Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.87",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: CLCN2 were set to 23707145; 19191339",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T10:48:14.221601Z",
            "panel_name": "Hereditary ataxia",
            "panel_id": 20,
            "panel_version": "1.243",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: CLCN2 were set to 23707145; 19191339",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T10:48:10.606386Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.239",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: CLCN2 were set to 19191339; 23707145",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T10:42:47.469579Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.238",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Tag Q4_21_MOI tag was added to gene: CLCN2.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T10:42:39.631422Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.86",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Tag Q4_21_MOI tag was added to gene: CLCN2.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-10-15T10:42:27.909998Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.86",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on mode of inheritance: MOI should be changed from 'Both mono- and biallelic' to 'Biallelic' only. Ataxia is a frequent feature of CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are also associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes include ataxia.",
            "entity_name": "CLCN2",
            "entity_type": "gene"
        }
    ]
}