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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1796",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1794",
"results": [
{
"created": "2020-05-20T20:47:58.689365+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM6 as ready",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:47:58.683811+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Not entirely clear at this stage whether this is a ciliopathy.",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:47:58.641634+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:47:55.486320+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:47:03.286194+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSWIM6 as Amber List (moderate evidence)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:47:03.276619+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T17:11:27.140881+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPGRIP1 were set to 25414380; 28456785; 24997176; 28559085\nPhenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6\t(MIM#613826)\nReview for gene: RPGRIP1 was set to GREEN\nAdded comment: Plays an essential role in the photoreceptor connecting cilia (PMID: 25414380). Multiple families reported.\r\n\r\nPMID: 28456785; Huang 2017: 3 families reported. 1 of which harboured intragenic (exon 1-22) deletion. \r\n\r\nPMID: 24997176; Khan 2014: Reported 11 consang families with variants in RPGRIP1 but 9 of 11 harboured the same p.(Glu370Asnfs*5) variant.\r\n\r\nPMID: 28559085; Stone 2017: 2 additional LCA patients reported.\r\n\r\nHameed 2003: Reported 2 different hom missense in 2 families. One of which, Ala547Ser, is present in gnomad (6704 homozygotes)\r\n\r\nGreen in Retinal disorders panel - PanelApp UK \nSources: Expert Review",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-05-20T16:28:59.637840+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Ciliopathies. Sources: Expert list\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to PMID 23059950\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome (MIM#270400)\nAdded comment: Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly\r\n\r\nPanelApp UK: Important differential diagnosis of ciliopathy\r\nSources: Expert Review \nSources: Expert list",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-20T16:26:36.012038+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.100",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705; Phenotypes: Nephronophthisis 19 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2020-05-20T16:25:23.124452+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705; Phenotypes: Nephronophthisis 19 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:44:03.963177+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24886560, 21493627, 25920555; Phenotypes: ?Meckel syndrome 9 614209, Joubert syndrome 27 617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:26:11.932245+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TOPORS was added\ngene: TOPORS was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552\nPhenotypes for gene: TOPORS were set to Retinitis pigmentosa 31 (MIM#609923)\nReview for gene: TOPORS was set to GREEN\nAdded comment: TOPORS is a ciliopathy protein localized to the base of the primary cilium (OMIM). No inheritance pattern noted in OMIM however AD appears to be consistent between 5 families currently reported. \r\n\r\nPMID: 17924349; Chakarova 2007: Reported different het variants in 2 families. Haploinsufficiency suggested meechanism. Variants not present in gnomAD.\r\n\r\nPMID: 28453362; Latasiewicz 2017: Het variant reported in one family. \r\n\r\nPMID: 18509552; Bowne 2008: 2 additional adRP families reported. \r\n\r\nGreen in 'Retinal disorders' panel - PanelApp UK \nSources: Expert Review",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:18:15.580431+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMOD as ready",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:18:15.550743+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umod has been classified as Green List (High Evidence).",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:18:13.266886+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:17:42.676959+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UMOD were set to ",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:17:12.944742+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:15:55.182864+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLG as ready",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:15:55.168714+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flg has been classified as Green List (High Evidence).",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:15:52.001238+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris 146700; {Dermatitis, atopic, susceptibility to, 2} 605803",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:15:23.046950+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLG were set to ",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:14:53.986378+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:14:21.222910+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.26",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985, 32055034; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:13:28.881290+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: BBIP1: Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene. \r\n\r\nPMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD\r\n\r\nOnly one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.; Changed phenotypes: Bardet-Biedl Syndrome",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:13:11.201313+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:12:32.051203+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC as ready",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:12:32.039790+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc has been classified as Green List (High Evidence).",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:12:22.055088+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:11:48.178644+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC were set to ",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:11:18.854274+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T14:10:48.468121+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:58:53.357289+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TULP1 was added\ngene: TULP1 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TULP1 were set to 17620573; 27440997; 21987678; 15557452\nPhenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 M(MIM#600132)\nReview for gene: TULP1 was set to GREEN\nAdded comment: Reported in multiple RP families.\r\nTULP1 expressed in the retina and localizes to the inner segments and connecting cilium of photoreceptors (PMID: 17620573)\r\n\r\nGreen in 'Retinal disorders' - PanelApp UK \nSources: Expert Review",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:46:42.504175+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.70",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ZNF423 was added\ngene: ZNF423 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ZNF423 were set to 22863007\nPhenotypes for gene: ZNF423 were set to Joubert syndrome 19 (MIM#614844)\nMode of pathogenicity for gene: ZNF423 was set to Other\nReview for gene: ZNF423 was set to AMBER\nAdded comment: Limited reports, single publication in 2012 reported AD and AR inheritance. Mechanism not well established. Pending additional reports.\r\n\r\n2 Turkish sibs with Joubert syndrome with homozygous mutation in the ZNF423 gene.\r\nTwo additional patients with Joubert syndrome were found to carry heterozygous ZNF423 mutations , which caused a dominant-negative effect on protein function in cellular studies. Published variants not present in gnomAD at unexpected frequencies and minimal LoF variants in gnomAD \nSources: Expert Review",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:45:43.537082+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: Other; Publications: 22863007; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:45:19.376564+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.6",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17967977, 19666841; Phenotypes: Brugada syndrome 2 611777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:08:28.357751+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25018096, 24945461, 25044745, 29220607, 29377742; Phenotypes: Cone-rod dystrophy 20 (MIM#615973); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:01:01.614248+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2A as ready",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:01:01.603598+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:00:57.476981+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-20T13:00:57.464565+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-20T11:51:20.067829+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.161",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19815619, 31775781, 26093275, 30105367; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-20T11:45:11.043790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2833",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T11:38:20.995149+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2833",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: SLC15A4: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 25238095; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC15A4",
"entity_type": "gene"
},
{
"created": "2020-05-20T11:16:18.509562+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.70",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722\nPhenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671)\nReview for gene: ZSWIM6 was set to AMBER\nAdded comment: There are some phenotypic overlap, primarily skeletal abnormalities.\r\n\r\nPMID: 25105228: 4 pts with AFND (Arg1163Trp)\r\n\r\nPMID: 28213462; AFND caused by this gene was classified as \"Likely ciliopathy\"\r\n\r\nPMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were \"Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features\". No functional studies performed but postulated to be dominant-negative. \nSources: Expert Review",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-20T11:04:38.659662+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-20T09:42:05.443468+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.161",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20172860, 31068150; Phenotypes: Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886), Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000), Medullary cystic kidney disease 2 (MIM#603860); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-05-20T09:27:15.106849+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.73",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17291859, 30681730; Phenotypes: Ichthyosis vulgaris 146700, {Dermatitis, atopic, susceptibility to, 2} 605803; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FLG",
"entity_type": "gene"
},
{
"created": "2020-05-20T08:45:23.906898+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Ciliopathies. Sources: Expert list\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3C2A were set to PMID: 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome\t618440\nReview for gene: PIK3C2A was set to GREEN\nAdded comment: Function: catalyzes the phosphorylation of the lipids that are essential for a variety of cellular processes including cilia formation and vesicle trafficking.\r\n\r\nPMID: 31034465 - 3 unrelated families (5 patients) with cataracts, skeletal abnormalities, hearing loss, nephrocalcinosis, visual defects etc. Variants included a nonsense, canonical splice causing a large inframe deletion-insertion and intragenic CNV.\r\nMRIs revealed multiple forntal and periventricular lacunar infarcts, lesions of white matter. No mention of MTS or cerebellar atrophy.\r\nFunctional assays on patents fibroblasts showed reduced accumulation of PI(3)P (a downstream target of this gene) at the base of cilia and reduced cilia length. \nSources: Expert list",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-20T08:27:41.541917+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.14",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23220543; Phenotypes: Ellis-van Creveld syndrome 225500, ?Weyers acrofacial dysostosis 193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-05-20T08:18:38.990228+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GDF2 as Red List (low evidence)",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-05-20T08:18:38.982963+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No adequate replication studies exist for this gene, since the initial publication in 2013.",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-05-20T08:18:38.941807+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf2 has been classified as Red List (Low Evidence).",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:52:01.858481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STARD7 as ready",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:52:01.849133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stard7 has been classified as Green List (High Evidence).",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:51:51.446929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STARD7 as Green List (high evidence)",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:51:51.436358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stard7 has been classified as Green List (High Evidence).",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:51:30.910885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STARD7 was added\ngene: STARD7 was added to Mendeliome. Sources: Expert list\nSTR tags were added to gene: STARD7.\nMode of inheritance for gene: STARD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STARD7 were set to 11701600; 24114805; 31664034\nPhenotypes for gene: STARD7 were set to Epilepsy, familial adult myoclonic, 2, 607876\nMode of pathogenicity for gene: STARD7 was set to Other\nReview for gene: STARD7 was set to GREEN\nAdded comment: 158 individuals from 22 families reported with heterozygous 5-bp repeat expansion (ATTTC)n in intron 1 of the STARD7 gene. \nSources: Expert list",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:51:14.382432+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STARD7 as ready",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:51:14.373849+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stard7 has been classified as Green List (High Evidence).",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:50:32.362856+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STARD7 as Green List (high evidence)",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:50:32.350880+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stard7 has been classified as Green List (High Evidence).",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:49:57.021687+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STARD7 was added\ngene: STARD7 was added to Genetic Epilepsy. Sources: Literature\nSTR tags were added to gene: STARD7.\nMode of inheritance for gene: STARD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STARD7 were set to 11701600; 24114805; 31664034\nPhenotypes for gene: STARD7 were set to Epilepsy, familial adult myoclonic, 2, 607876\nMode of pathogenicity for gene: STARD7 was set to Other\nReview for gene: STARD7 was set to GREEN\nAdded comment: 158 individuals from 22 families reported with heterozygous 5-bp repeat expansion (ATTTC)n in intron 1 of the STARD7 gene. \nSources: Literature",
"entity_name": "STARD7",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:39:21.097554+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.6",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27081547, 29891884, 30507091; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:15:14.569524+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:15:14.557930+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:15:10.957944+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:14:41.109077+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMPPB were set to ",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:14:09.251227+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:13:41.440986+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMPPB as Amber List (moderate evidence)",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:13:41.427439+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T20:12:34.352487+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-05-19T17:10:52.356176+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.35",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23768512, 30257713, 26310427, 24780531; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-19T16:27:58.228190+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.6",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23972370, 27081547, 25674101.; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-05-19T12:20:56.780736+10:00",
"panel_name": "Retinal Disorders",
"panel_id": 3124,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Autosomal Recessive/X-Linked Retinitis Pigmentosa; Macular Dystrophy/Stargardt Disease; Syndromic Retinopathy; Autosomal Dominant Retinitis Pigmentosa; Vitreoretinopathy; Usher Syndrome; Stickler Syndrome; Cone-rod Dystrophy; Congenital Stationary Night Blindness",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-19T12:14:57.307567+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ACBD5 were set to ",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2020-05-19T12:10:27.911785+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: 11006213, 23563732, 27079236; Phenotypes: Cone-rod dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:59:03.071969+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Cone-rod Dystrophies to Cone-rod Dystrophy\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-19T11:55:20.887881+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC119 was added\ngene: UNC119 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: UNC119 were set to 30679166\nPhenotypes for gene: UNC119 were set to ?Cone-rod dystrophy",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.839482+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTLL5 was added\ngene: TTLL5 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TTLL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTLL5 were set to 30679166\nPhenotypes for gene: TTLL5 were set to Cone-rod dystrophy 19,615860",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.790633+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEMA4A was added\ngene: SEMA4A was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SEMA4A were set to 30679166\nPhenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.734138+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPGRIP1 were set to 30679166\nPhenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.684749+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: RPGR were set to 30679166\nPhenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.635498+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RIMS1 was added\ngene: RIMS1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RIMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RIMS1 were set to 30679166\nPhenotypes for gene: RIMS1 were set to Cone-rod dystrophy 7, 603649",
"entity_name": "RIMS1",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.578904+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAX2 was added\ngene: RAX2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAX2 were set to 30679166\nPhenotypes for gene: RAX2 were set to Cone-rod dystrophy 11",
"entity_name": "RAX2",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.526144+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB28 was added\ngene: RAB28 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RAB28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB28 were set to 30679166\nPhenotypes for gene: RAB28 were set to Cone-rod dystrophy 18, 615374",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.478294+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPH2 was added\ngene: PRPH2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRPH2 were set to 30679166\nPhenotypes for gene: PRPH2 were set to Choroidal dystrophy, central areolar 2 MIM#613105",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.430193+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PROM1 was added\ngene: PROM1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PROM1 were set to 30679166\nPhenotypes for gene: PROM1 were set to Cone-rod dystrophy 12, 612657",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.383391+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POC1B was added\ngene: POC1B was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1B were set to 30679166\nPhenotypes for gene: POC1B were set to Cone-rod dystrophy 20, 615973",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.336949+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PITPNM3 was added\ngene: PITPNM3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PITPNM3 were set to 30679166; 17377520; 22405330\nPhenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.287761+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE6H was added\ngene: PDE6H was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE6H were set to 30679166\nPhenotypes for gene: PDE6H were set to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.241017+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDE6C was added\ngene: PDE6C was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE6C were set to 30679166\nPhenotypes for gene: PDE6C were set to Cone dystrophy 4 MIM#613093",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.193670+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPN1MW was added\ngene: OPN1MW was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: OPN1MW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OPN1MW were set to 30679166\nPhenotypes for gene: OPN1MW were set to Blue cone monochromacy MIM#303700; Colorblindness, deutan MIM#303800",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.147026+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPN1LW was added\ngene: OPN1LW was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OPN1LW were set to 30679166\nPhenotypes for gene: OPN1LW were set to Blue cone monochromacy MIM#303700; Colorblindness, protan MIM#303900",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.100291+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNV2 was added\ngene: KCNV2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNV2 were set to 30679166\nPhenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B MIM#610356",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.053836+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GUCY2D was added\ngene: GUCY2D was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GUCY2D were set to 30679166\nPhenotypes for gene: GUCY2D were set to Cone-rod dystrophy 6 MIM#601777",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:20.005977+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GUCA1A was added\ngene: GUCA1A was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GUCA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GUCA1A were set to 30679166\nPhenotypes for gene: GUCA1A were set to Cone dystrophy-3, 602093",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:19.954550+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CRX was added\ngene: CRX was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CRX were set to 30679166\nPhenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:19.909193+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNGB3 was added\ngene: CNGB3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNGB3 were set to 30679166\nPhenotypes for gene: CNGB3 were set to Achromatopsia-3, 262300",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:19.863800+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNGA3 was added\ngene: CNGA3 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNGA3 were set to 30679166\nPhenotypes for gene: CNGA3 were set to Achromatopsia 2MIM#216900",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-05-19T11:55:19.818066+10:00",
"panel_name": "Cone-rod Dystrophies",
"panel_id": 3147,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CERKL was added\ngene: CERKL was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CERKL were set to 30679166\nPhenotypes for gene: CERKL were set to Cone-rod dystrophy",
"entity_name": "CERKL",
"entity_type": "gene"
}
]
}