{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1667","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1665","results":[{"created":"2020-08-19T16:03:54.500511+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL4 as ready","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-19T16:03:54.492222+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl4 has been classified as Green List (High Evidence).","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-19T16:03:46.267823+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELOVL4 as Green List (high evidence)","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-19T16:03:46.260249+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl4 has been classified as Green List (High Evidence).","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-19T16:02:53.585454+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPINK5 as ready","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-08-19T16:02:53.577058+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spink5 has been classified as Green List (High Evidence).","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-08-19T16:02:42.327926+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPINK5 as Green List (high evidence)","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-08-19T16:02:42.319693+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spink5 has been classified as Green List (High Evidence).","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-08-19T15:19:03.580285+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1). \nSources: Literature; to: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1, PMID: 30578701 1 patient in Figure 1, PMID: 23754960 1 patient). \r\nSources: Literature","entity_name":"CERS3","entity_type":"gene"},{"created":"2020-08-19T15:18:01.159694+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CERS3 was added\ngene: CERS3 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CERS3 were set to 23754960; 30578701; 23754960\nPhenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)\nReview for gene: CERS3 was set to GREEN\ngene: CERS3 was marked as current diagnostic\nAdded comment: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1). \nSources: Literature","entity_name":"CERS3","entity_type":"gene"},{"created":"2020-08-19T15:03:58.796449+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Belinda Chong","item_type":"entity","text":"gene: EBP was added\ngene: EBP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: EBP 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: EBP were set to 10391218; 11038443; 12509714\nPhenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant\t302960\nAdded comment: Multiple unrelated individuals with mutations in the EBP (PMID:10391218, 11038443; 12509714)\r\n\r\nPMID: 7363504\r\nManzke et al. (1980) reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. \r\n\r\nPMID: 12509714 \r\nAffected females had typical skin manifestations an all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female. \nSources: Literature","entity_name":"EBP","entity_type":"gene"},{"created":"2020-08-19T14:37:20.585267+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: NIPAL4 was added\ngene: NIPAL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NIPAL4 were set to 30578701\nPhenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6\t(MIM#612281)\nPenetrance for gene: NIPAL4 were set to unknown\nReview for gene: NIPAL4 was set to GREEN\nAdded comment: PMID: 30578701;\r\n- 5 families all consanguineous with 3 unique variants\r\n- 4 have erythroderma and all 5 have PPK \nSources: Literature","entity_name":"NIPAL4","entity_type":"gene"},{"created":"2020-08-19T14:32:08.994747+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: NSDHL was added\ngene: NSDHL was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: NSDHL 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: NSDHL were set to 15689440; 26459993\nPhenotypes for gene: NSDHL were set to CHILD syndrome\t(MIM#308050)\nPenetrance for gene: NSDHL were set to unknown\nReview for gene: NSDHL was set to GREEN\nAdded comment: CHILD = Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects\r\n\r\nPMID: 15689440;26459993; GeneReviews\r\n- Over 20 variants reported.\r\n\r\n*affected females. Males are usually lethal however, few males reported including 1 mosaic (GeneReviews)\r\n*expressivity is highly variable; in affected females, CHILD syndrome may manifest as minor skin changes only. (GeneReviews) \nSources: Literature","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-19T14:21:41.540612+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: CDSN: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 1 MIM#270300","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-19T14:21:37.243987+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CDSN was added\ngene: CDSN was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDSN were set to 23957618; 22146835; 20691404; 21191406\nPhenotypes for gene: CDSN were set to Peeling skin syndrome 1\tMIM#270300\ngene: CDSN was marked as current diagnostic\nAdded comment: Associated with peeling skin syndrome, affected individuals have skin peeling, hyperkeratosis and erythema. \r\n\r\nAt least 4 unrelated individuals reported, all with LoF variants. \nSources: Literature","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-08-19T12:40:55.292096+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: PKP1 was added\ngene: PKP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: PKP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PKP1 were set to 32248567\nPhenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome (MIM#604536)\nPenetrance for gene: PKP1 were set to unknown\nReview for gene: PKP1 was set to GREEN\nAdded comment: PMID: 32248567\r\n- 16 out of 18 probands presented with PPK \nSources: Literature","entity_name":"PKP1","entity_type":"gene"},{"created":"2020-08-19T12:28:59.638767+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2843","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAOK1 as ready","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T12:28:59.629628+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taok1 has been classified as Green List (High Evidence).","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T12:28:55.022711+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2843","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAOK1 were changed from  to Intellectual disability; hypotonia; macrocephaly","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T12:28:24.119228+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2842","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAOK1 were set to ","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T12:27:57.466802+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2841","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T11:56:07.099673+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: PNPLA1 was added\ngene: PNPLA1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA1 were set to 30578701\nPhenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10\t(MIM#615024)\nPenetrance for gene: PNPLA1 were set to unknown\nReview for gene: PNPLA1 was set to GREEN\nAdded comment: PMID: 30578701;\r\n- 19 consanguineous families with 13 unique variants\r\n- all had erythroderma, 12 had PPK \nSources: Literature","entity_name":"PNPLA1","entity_type":"gene"},{"created":"2020-08-19T11:50:31.299899+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: POMP was added\ngene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMP were set to 20226437; 27503413; 29315485\nPhenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma\t(MIM#601952)\nPenetrance for gene: POMP were set to unknown\nReview for gene: POMP was set to GREEN\nAdded comment: Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar\r\nkeratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists.\r\n\r\nPMID: 20226437;\r\nCohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated)\r\n\r\nPMID: 27503413;\r\n1x proband from consanguineous parents\r\n\r\nPMID: 29315485;\r\n1x proband\r\n\r\n*All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP\r\nc.-95del \nSources: Literature","entity_name":"POMP","entity_type":"gene"},{"created":"2020-08-19T11:25:26.970189+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: SDR9C7 was added\ngene: SDR9C7 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SDR9C7 were set to 30578701; 31633189\nPhenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13\t(MIM#617574)\nPenetrance for gene: SDR9C7 were set to unknown\nReview for gene: SDR9C7 was set to GREEN\nAdded comment: PMID: 30578701;\r\n3 unrelated patients from consanguineous families with congenital ichthyosiform erythroderma\r\n\r\nPMID: 31633189;\r\nAll 3 reported patients had mild PPK including 1x born with scaly skin with erythroderma at birth \nSources: Literature","entity_name":"SDR9C7","entity_type":"gene"},{"created":"2020-08-19T10:50:47.704335+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2840","user_name":"Sue White","item_type":"entity","text":"commented on gene: TAOK1: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia. Most were LOF, 2 missense. 3 had macrocephaly.","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T10:49:12.544443+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2840","user_name":"Sue White","item_type":"entity","text":"reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T10:48:09.123034+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.42","user_name":"Sue White","item_type":"entity","text":"reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAOK1","entity_type":"gene"},{"created":"2020-08-19T10:37:44.137164+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Naomi Baker","item_type":"entity","text":"gene: ELOVL4 was added\ngene: ELOVL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELOVL4 were set to PMID:24566826; 26258735; 30065956.\nPhenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34, MIM#133190\nReview for gene: ELOVL4 was set to GREEN\nAdded comment: In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956). \nSources: Literature","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-19T10:37:37.710379+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Ichthyosiform erythroderma is a feature of Netherton syndrome\r\n\r\nPMID: 11841556;\r\n- cohort of 21 families with 26 affecteds (7 consanguineous)\r\n- all except 1 presented with scaly erythroderma at birth \nSources: Literature; to: Ichthyosiform erythroderma is a feature of Netherton syndrome\r\n\r\nPMID: 11841556;\r\n- cohort of 21 families with 26 affecteds (7 consanguineous)\r\n- all except 1 presented with scaly erythroderma at birth \r\nSources: Literature","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-08-19T10:34:18.037486+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Ain Roesley","item_type":"entity","text":"gene: SPINK5 was added\ngene: SPINK5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK5 were set to 11841556\nPhenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500)\nPenetrance for gene: SPINK5 were set to unknown\nReview for gene: SPINK5 was set to GREEN\nAdded comment: Ichthyosiform erythroderma is a feature of Netherton syndrome\r\n\r\nPMID: 11841556;\r\n- cohort of 21 families with 26 affecteds (7 consanguineous)\r\n- all except 1 presented with scaly erythroderma at birth \nSources: Literature","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-08-19T09:34:41.189493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3839","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCKAP1L were changed from Immunodeficiency to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982","entity_name":"NCKAP1L","entity_type":"gene"},{"created":"2020-08-19T09:34:16.728227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3838","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency 72 with autoinflammation, MIM# 618982","entity_name":"NCKAP1L","entity_type":"gene"},{"created":"2020-08-19T09:34:07.207627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3838","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 72 with autoinflammation 618982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCKAP1L","entity_type":"gene"},{"created":"2020-08-19T09:33:42.476145+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCKAP1L were changed from Immunodeficiency; Immune dysregulation to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982","entity_name":"NCKAP1L","entity_type":"gene"},{"created":"2020-08-19T09:32:51.008475+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation, MIM# 618982","entity_name":"NCKAP1L","entity_type":"gene"},{"created":"2020-08-19T09:32:42.501725+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation 618982","entity_name":"NCKAP1L","entity_type":"gene"},{"created":"2020-08-18T13:37:04.366224+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2840","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAI1 as ready","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:37:04.355657+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rai1 has been classified as Green List (High Evidence).","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:37:00.302864+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2840","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAI1 were changed from  to Smith-Magenis syndrome (MIM#182290)","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:36:32.109365+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2839","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAI1 were set to ","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:36:01.648624+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2838","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:35:34.585728+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2837","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:34:32.945589+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAI1 as ready","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:34:32.936440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rai1 has been classified as Green List (High Evidence).","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:34:25.231638+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAI1 were changed from  to Smith-Magenis syndrome (MIM#182290)","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:34:03.297640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3837","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAI1 were set to ","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:33:42.141059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3836","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T13:20:40.736663+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3835","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290), AD, IC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAI1","entity_type":"gene"},{"created":"2020-08-18T12:19:27.801477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3835","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF1C as ready","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:19:27.793350+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:19:19.414445+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3835","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Amber List (moderate evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:19:19.405822+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:18:32.561537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3834","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TAF1C was added\ngene: TAF1C was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF1C were set to 32779182\nPhenotypes for gene: TAF1C were set to Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology\nReview for gene: TAF1C was set to AMBER\nAdded comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual). Following a normal CMA, exome in the first case revealed a homozygous missense SNV (NM_005679.3:c.1165C>T / p.Arg389Cys) supported by in silico predictions. mRNA and protein levels were substantially reduced in fibroblasts from this subject. Only the patient and parents were tested for the variant but not 3 unaffected sibs (fig1). The second individual was homozygous for another missense variant (p.Arg405Cys) also supported by in silico predictions. The girl was the single affected person within the family with an unaffected sib and parents heterozygous for the variant. Several other unaffected relatives in the extended pedigree were either carriers for this variant or homozygous for the wt allele. TAF1C encodes the TATA-box binding protein associated factor (TAF) RNA polymerase I subunit. RNA polymerase I (Pol I) transcribes genes to produce rRNA. For Pol I to initiate transcription, two transcription factors are required : UBF (upstream binding factor encoded by UBTF) and SL1 (selectivity factor 1). The latter is formed by TBP (TATA-binding protein) and 3 Pol I-specific TBP-associated factors (TAFs). A recurrent de novo missense variant in UBTF (encoding the other Pol I transcription factor) causes a disorder with highly similar features. The specific variant acts through a gain-of-function mechanism (and not by LoF which appears to apply for TAF1C based on expression data). The authors hypothesize that altered Pol I activity and resulting ribosomal stress could cause the microcephaly and leukodystrophy (both reported in 1 - the same - individual). \nSources: Expert list","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:17:25.980915+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2837","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1C as Amber List (moderate evidence)","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:17:25.970810+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2837","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T12:15:08.431814+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1S1 as ready","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:15:08.422538+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s1 has been classified as Green List (High Evidence).","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:15:04.557279+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP1S1 as Green List (high evidence)","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:15:04.547593+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s1 has been classified as Green List (High Evidence).","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:14:09.524689+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1S1 as ready","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:14:09.508967+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s1 has been classified as Green List (High Evidence).","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:14:04.392968+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP1S1 as Green List (high evidence)","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:14:04.383679+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s1 has been classified as Green List (High Evidence).","entity_name":"AP1S1","entity_type":"gene"},{"created":"2020-08-18T12:13:14.096112+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STS as ready","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:13:14.091616+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Palms are more typically spared in STS-associated ichthyosis.","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:13:14.045062+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Amber List (Moderate Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:12:43.994901+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STS as ready","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:12:43.986739+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Amber List (Moderate Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:12:07.932582+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STS as Amber List (moderate evidence)","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:12:07.923793+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Amber List (Moderate Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2020-08-18T12:09:51.375104+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD5 as ready","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-08-18T12:09:51.365098+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd5 has been classified as Red List (Low Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-08-18T12:09:46.243440+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABHD5 as Red List (low evidence)","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-08-18T12:09:46.233331+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd5 has been classified as Red List (Low Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-08-18T10:37:57.707726+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2836","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: TAF1C was added\ngene: TAF1C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF1C were set to 32779182\nPhenotypes for gene: TAF1C were set to Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology\nPenetrance for gene: TAF1C were set to Complete\nReview for gene: TAF1C was set to AMBER\nAdded comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. \r\n\r\nBoth presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual). \r\n\r\nFollowing a normal CMA, exome in the first case revealed a homozygous missense SNV (NM_005679.3:c.1165C>T / p.Arg389Cys) supported by in silico predictions. mRNA and protein levels were substantially reduced in fibroblasts from this subject. Only the patient and parents were tested for the variant but not 3 unaffected sibs (fig1).\r\n\r\nThe second individual was homozygous for another missense variant (p.Arg405Cys) also supported by in silico predictions. The girl was the single affected person within the family with an unaffected sib and parents heterozygous for the variant. Several other unaffected relatives in the extended pedigree were either carriers for this variant or homozygous for the wt allele.\r\n\r\nTAF1C encodes the TATA-box binding protein associated factor (TAF) RNA polymerase I subunit.\r\n\r\nRNA polymerase I (Pol I) transcribes genes to produce rRNA. For Pol I to initiate transcription, two transcription factors are required : UBF (upstream binding factor encoded by UBTF) and SL1 (selectivity factor 1). The latter is formed by TBP (TATA-binding protein) and 3 Pol I-specific TBP-associated factors (TAFs).   \r\n\r\nA recurrent de novo missense variant in UBTF (encoding the other Pol I transcription factor) causes a disorder with highly similar features. The specific variant acts through a gain-of-function mechanism (and not by LoF which appears to apply for TAF1C based on expression data).\r\n\r\nThe authors hypothesize that altered Pol I activity and resulting ribosomal stress could cause the microcephaly and leukodystrophy (both reported in 1 - the same - individual).\r\n\r\nAs a result, TAF1C may be considered for inclusion in the ID panel with amber rating pending further evidence. \nSources: Literature","entity_name":"TAF1C","entity_type":"gene"},{"created":"2020-08-18T09:41:21.247911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3833","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KALRN as ready","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:41:21.237762+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3833","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kalrn has been classified as Red List (Low Evidence).","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:41:12.897058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3833","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KALRN were changed from  to Susceptibility to coronary heart disease; Intellectual disability","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:39:40.577102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3832","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KALRN were set to ","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:39:27.675063+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3831","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KALRN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:31:03.023829+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3830","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KALRN as Red List (low evidence)","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:31:03.008759+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kalrn has been classified as Red List (Low Evidence).","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-18T09:30:47.393716+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3829","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KALRN: Rating: RED; Mode of pathogenicity: None; Publications: 17357071, 27421267, 30675382, 32580138; Phenotypes: Susceptibility to coronary heart disease, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KALRN","entity_type":"gene"},{"created":"2020-08-17T21:28:53.534940+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPRJ as ready","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-17T21:28:53.526680+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprj has been classified as Amber List (Moderate Evidence).","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-17T19:26:26.151256+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SULT2B1 as ready","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:26:26.147424+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree unclear if PKK is a consistent feature. Gene is Green on Ichthyosis panel.","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:26:26.114174+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sult2b1 has been classified as Amber List (Moderate Evidence).","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:25:56.599510+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SULT2B1 as ready","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:25:56.589271+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sult2b1 has been classified as Amber List (Moderate Evidence).","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:25:49.604290+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SULT2B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:25:32.919263+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SULT2B1 as Amber List (moderate evidence)","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:25:32.909620+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sult2b1 has been classified as Amber List (Moderate Evidence).","entity_name":"SULT2B1","entity_type":"gene"},{"created":"2020-08-17T19:24:02.411744+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT9 as ready","entity_name":"KRT9","entity_type":"gene"},{"created":"2020-08-17T19:24:02.401069+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt9 has been classified as Green List (High Evidence).","entity_name":"KRT9","entity_type":"gene"},{"created":"2020-08-17T19:23:59.703648+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT9 were changed from  to Palmoplantar keratoderma, epidermolytic (MIM#144200)","entity_name":"KRT9","entity_type":"gene"},{"created":"2020-08-17T19:23:34.253546+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT9 were set to ","entity_name":"KRT9","entity_type":"gene"},{"created":"2020-08-17T19:23:12.833237+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT9","entity_type":"gene"},{"created":"2020-08-17T19:22:19.065035+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAT as ready","entity_name":"TAT","entity_type":"gene"},{"created":"2020-08-17T19:22:19.052079+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tat has been classified as Green List (High Evidence).","entity_name":"TAT","entity_type":"gene"}]}