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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1688",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1686",
"results": [
{
"created": "2020-08-05T12:01:21.663129+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TMEM43 was added\ngene: TMEM43 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986\nPhenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 (MIM# \t604400)\nPenetrance for gene: TMEM43 were set to unknown\nReview for gene: TMEM43 was set to AMBER\nAdded comment: Definitive for ARVC by ClinGen working group\r\n\r\np.(Ser358Leu) is known as the \"Newfoundland\" founder variant\r\n\r\nFrom ClinGen:\r\nAt least 9 variants (mostly missense) have been reported. However, the pathogenicity of most of the variants is unknown. The majority of genetic evidence comes from case-level data and segregation data for one founder variant, p.(Ser358Leu), which has been reported in more than 20 families with ARVC and occurred 1x de novo (PMID:18313022;21214875;23812740; 22725725;24598986).\r\n\r\n*no reports for isolated DCM \nSources: Literature",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-05T11:36:39.519108+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: PRDM16 was added\ngene: PRDM16 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.\nPhenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373\nReview for gene: PRDM16 was set to AMBER\nAdded comment: Arndt et al., 2013 (PMID:23768516) identified a minimal deletion region of PRDM16 in 1p36del syndrome. Resequencing a cohort of 75 LVNC patients identified three SNV mutations (one truncation, one frameshift, one missense) and sequencing a series of cardiac biopsies from 131 individuals with DCM identified 5 individuals with 4 previously unreported nonsynonomous variants. \r\n\r\nThis publication was refuted by Leeuw & Houge 2014 (PMID: 24387995). \r\n\r\nDeplancq et al., 2020 (PMID: 31965688) describes the first fetal case of left ventricular non‐compaction (LVNC) with a heterozygous de novo nonsense variant. \nSources: Literature",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2020-08-05T11:28:25.799454+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA6 were set to 25119427; 31301121; 20705924\nPhenotypes for gene: GATA6 were set to Dilated cardiomyopathy\nReview for gene: GATA6 was set to AMBER\ngene: GATA6 was marked as current diagnostic\nAdded comment: PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation.\r\n\r\nOther clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121).\r\n\r\nCombinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924). \nSources: Literature",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-08-05T10:50:07.587141+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.\r\n\r\nKnockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.\r\n\r\nGreen on PanelApp GEL. \nSources: Literature; to: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a much higher incidence of missense variants over LoF variants.\r\n\r\nKnockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.\r\n\r\nGreen on PanelApp GEL. \r\nSources: Literature",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-05T10:49:42.296898+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656\nPhenotypes for gene: FLNC were set to Dilated cardiomyopathy\nReview for gene: FLNC was set to GREEN\ngene: FLNC was marked as current diagnostic\nAdded comment: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.\r\n\r\nKnockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.\r\n\r\nGreen on PanelApp GEL. \nSources: Literature",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:55:39.915800+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:55:39.911613+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:55:39.892381+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:55:34.221202+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:55:04.594325+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSE were set to ",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:54:30.666273+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:54:07.074870+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ARSE.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:53:56.110873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301713; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:50:24.904861+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:50:24.899418+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:50:24.829488+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:50:07.996696+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ARSE.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:49:31.140596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:49:22.292949+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.55",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: FKTN was added\ngene: FKTN was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKTN were set to 17036286; 19015585\nPhenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X MIM#611615\nReview for gene: FKTN was set to AMBER\ngene: FKTN was marked as current diagnostic\nAdded comment: Total 6 families (5 Japanese) with DCM and mild proximal muscle weakness.\r\n\r\nPMID 17036286: 4 Japanese families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. The patients were chet for a 3kb retrotransposon in the FKTN 3' UTR (all patients) and a missense variant (either Gln358Pro or Arg179Thr, both absent from gnomAD). The 3kb insertion is associated with a common founder haplotype and is found in 87% of alleles causing autosomal recessive Fukuyama congenital muscular dystrophy.\r\n\r\nPMID 19015585: 1 patient with DCM, mild muscle involvement, and no brain involvement was chet for the 3kb insertion described above and Cys101Phe (absent from gnomad). The 3kb insertion was also found heterozygous in 2 other DCM patients and 3 controls.\r\n\r\nDOI: 10.1055/s-0036-1583659 (no PMID, only abstract available) describes 2 sibs of a consanguineous Turkish family with homozygous exon 3 deletion, who had mild, non-progressive proximal muscle weakness and DCM. \nSources: Literature",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:48:49.480914+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:48:28.726710+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:47:51.787196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:47:51.774929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:47:39.819807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:47:17.877402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ARSE.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:47:03.278926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:46:11.183581+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSE as ready",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:46:11.172942+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arse has been classified as Green List (High Evidence).",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:46:06.122907+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ARSE.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-05T09:45:53.818690+10:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:03:45.215538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPP1 as ready",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:03:45.201637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpp1 has been classified as Green List (High Evidence).",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:03:27.561594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:02:56.493838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPP1 were set to ",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:02:33.763690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:01:59.586234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAT1 as ready",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:01:59.576259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Green List (High Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:01:49.257935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:01:22.870347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSAT1 were set to ",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-04T20:01:01.265324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-04T17:50:24.091704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3684",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 204500, Spinocerebellar ataxia, autosomal recessive 7 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:52:26.261449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3684",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32077105; Phenotypes: ?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:23:41.294896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO11 as ready",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:23:41.286458+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo11 has been classified as Green List (High Evidence).",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:23:34.998956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:23:14.197188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO11 were set to ",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:22:54.326905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:22:36.638293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:21:22.419911+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBXO11: Changed publications: 30679813, 30057029, 29796876",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:20:47.269816+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO11 as ready",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:20:47.260949+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo11 has been classified as Green List (High Evidence).",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:20:42.836556+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:19:56.887520+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:19:20.774746+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO11 were set to ",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:19:07.233495+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T15:06:14.141660+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2814",
"user_name": "Vivian WEI",
"item_type": "entity",
"text": "reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:35:07.962885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD7 as ready",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:35:07.953385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd7 has been classified as Green List (High Evidence).",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:35:01.407000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRMD7 were changed from to Nystagmus 1, congenital, X-linked 310700; Nystagmus, infantile periodic alternating, X-linked 310700",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:34:42.900657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRMD7 were set to ",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:34:26.230147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FRMD7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:33:40.178342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:33:40.167262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Green List (High Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:33:33.672650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:33:16.995763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIFM1 were set to ",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T13:33:00.381118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:48:26.422095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3675",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19072571, 23406872; Phenotypes: Nystagmus 1, congenital, X-linked 310700, Nystagmus, infantile periodic alternating, X-linked 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "FRMD7",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:44:59.274015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3675",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:17:48.478947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:17:41.213950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGQ: Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).\r\n\r\nJohnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362). \r\n\r\nAffected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.\r\n\r\nPIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis. \r\n\r\nMore than 10 variants have been reported to date (missense / pLoF).; Changed phenotypes: Epileptic encephalopathy, early infantile, 77, MIM# 618548",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:17:05.394129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGQ were set to 25558065; 24463883; 31148362",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:16:36.419270+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGQ were set to 25558065; 24463883; 31148362",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:15:22.076106+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGQ as ready",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:15:22.065195+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigq has been classified as Green List (High Evidence).",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:15:05.860161+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGQ as Green List (high evidence)",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T11:15:05.851942+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigq has been classified as Green List (High Evidence).",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:57:45.842181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC61B as ready",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:57:45.831635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:57:36.298379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC61B as Amber List (moderate evidence)",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:57:36.290296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:57:20.603789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC61B was added\ngene: SEC61B was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC61B were set to 28862642; 30652979; 28375157\nPhenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts\nReview for gene: SEC61B was set to AMBER\nAdded comment: Two unrelated individuals reported. \nSources: Expert list",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:56:58.201639+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61B: Changed publications: 28862642, 30652979, 28375157",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:56:47.556778+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Sources: Expert list; to: Two unrelated individuals reported.Sources: Expert list",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:56:21.727681+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC61B were set to 28862642; 30652979",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:53:57.145415+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC61B as ready",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:53:57.135800+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:53:53.116823+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC61B as Amber List (moderate evidence)",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:53:53.105940+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:53:43.219402+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC61B was added\ngene: SEC61B was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC61B were set to 28862642; 30652979\nPhenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts\nReview for gene: SEC61B was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "SEC61B",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:52:51.062523+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:52:51.053550+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:52:47.319814+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG9 as Amber List (moderate evidence)",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:52:47.311147+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:52:39.447546+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG9 were set to 31395617; 30652979\nPhenotypes for gene: ALG9 were set to Polycystic liver and kidney disease\nReview for gene: ALG9 was set to AMBER\nAdded comment: Sources: Expert list",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:56.544970+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC63 as ready",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:56.535789+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec63 has been classified as Green List (High Evidence).",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:53.704994+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC63 as Green List (high evidence)",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:53.695142+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec63 has been classified as Green List (High Evidence).",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:43.557190+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC63 was added\ngene: SEC63 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC63 were set to 15133510\nPhenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)\nReview for gene: SEC63 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:04.189966+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCSH as ready",
"entity_name": "PRKCSH",
"entity_type": "gene"
}
]
}