{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1489","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1487","results":[{"created":"2020-12-03T16:55:04.570569+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome\tMIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D","entity_name":"ISCA-37446-Gain","entity_type":"region"},{"created":"2020-12-03T16:54:48.111051+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of Region: ISCA-37446-Gain: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ISCA-37446-Gain","entity_type":"region"},{"created":"2020-12-03T16:54:38.066598+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed Region: ISCA-37446-Gain: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D; Mode of inheritance: None","entity_name":"ISCA-37446-Gain","entity_type":"region"},{"created":"2020-12-03T16:53:40.584468+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37446-Gain as Green List (high evidence)","entity_name":"ISCA-37446-Gain","entity_type":"region"},{"created":"2020-12-03T16:53:40.574467+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37446-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37446-Gain","entity_type":"region"},{"created":"2020-12-03T16:52:32.203464+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37443-Loss as ready","entity_name":"ISCA-37443-Loss","entity_type":"region"},{"created":"2020-12-03T16:52:32.193054+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37443-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37443-Loss","entity_type":"region"},{"created":"2020-12-03T16:52:29.961495+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism","entity_name":"ISCA-37443-Loss","entity_type":"region"},{"created":"2020-12-03T16:52:09.483470+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37443-Loss as Green List (high evidence)","entity_name":"ISCA-37443-Loss","entity_type":"region"},{"created":"2020-12-03T16:52:09.471124+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37443-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37443-Loss","entity_type":"region"},{"created":"2020-12-03T16:50:20.612537+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37441-Loss as ready","entity_name":"ISCA-37441-Loss","entity_type":"region"},{"created":"2020-12-03T16:50:20.605300+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37441-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37441-Loss","entity_type":"region"},{"created":"2020-12-03T16:50:17.248505+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37441-Loss were changed from Potocki-Shaffer syndrome MIM#601224 to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina","entity_name":"ISCA-37441-Loss","entity_type":"region"},{"created":"2020-12-03T16:49:51.340834+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37441-Loss as Green List (high evidence)","entity_name":"ISCA-37441-Loss","entity_type":"region"},{"created":"2020-12-03T16:49:51.333147+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37441-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37441-Loss","entity_type":"region"},{"created":"2020-12-03T16:48:42.577742+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37436-Loss.","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:48:02.600649+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37440-Loss as ready","entity_name":"ISCA-37440-Loss","entity_type":"region"},{"created":"2020-12-03T16:48:02.590548+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37440-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37440-Loss","entity_type":"region"},{"created":"2020-12-03T16:47:59.435909+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37440-Loss were changed from 2p21 deletion syndrome to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM#\t606407","entity_name":"ISCA-37440-Loss","entity_type":"region"},{"created":"2020-12-03T16:47:28.017046+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37440-Loss as Green List (high evidence)","entity_name":"ISCA-37440-Loss","entity_type":"region"},{"created":"2020-12-03T16:47:28.006712+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37440-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37440-Loss","entity_type":"region"},{"created":"2020-12-03T16:45:50.865885+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37439-Gain as ready","entity_name":"ISCA-37439-Gain","entity_type":"region"},{"created":"2020-12-03T16:45:50.857968+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37439-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37439-Gain","entity_type":"region"},{"created":"2020-12-03T16:45:44.726908+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37439-Gain as Green List (high evidence)","entity_name":"ISCA-37439-Gain","entity_type":"region"},{"created":"2020-12-03T16:45:44.715750+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37439-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37439-Gain","entity_type":"region"},{"created":"2020-12-03T16:43:53.716849+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37436-Loss as ready","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:43:53.705891+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37436-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:43:51.392029+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:43:36.017192+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37436-Loss as Green List (high evidence)","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:43:35.996946+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37436-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:43:26.614457+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, recurrent, with pressure palsies, MIM#\t162500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ISCA-37436-Loss","entity_type":"region"},{"created":"2020-12-03T16:40:34.817143+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37468-Loss.","entity_name":"ISCA-37468-Loss","entity_type":"region"},{"created":"2020-12-03T16:39:36.708909+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to Region: ISCA-37493-Loss.","entity_name":"ISCA-37493-Loss","entity_type":"region"},{"created":"2020-12-03T16:01:58.806412+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37436-Gain as ready","entity_name":"ISCA-37436-Gain","entity_type":"region"},{"created":"2020-12-03T16:01:58.769492+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37436-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37436-Gain","entity_type":"region"},{"created":"2020-12-03T16:01:56.688339+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-37436-Gain were changed from Charcot-Marie-Tooth disease type 1A to Charcot-Marie-Tooth disease type 1A, MIM#118220","entity_name":"ISCA-37436-Gain","entity_type":"region"},{"created":"2020-12-03T16:01:28.967716+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-37436-Gain as Green List (high evidence)","entity_name":"ISCA-37436-Gain","entity_type":"region"},{"created":"2020-12-03T16:01:28.955893+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37436-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37436-Gain","entity_type":"region"},{"created":"2020-12-03T15:52:15.831376+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5525","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFE3 were set to 30595499; 31833172; 33057194","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:51:44.178493+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5524","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:51:23.123687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5523","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFE3: Added comment: PMID: 32409512 (2020) - 14 variants reported as de novo events in 17 unrelated cases (including 5 previously published) of severe intellectual disability with pigmentary mosaicism and storage disorder-like features; Changed publications: 30595499, 31833172, 32409512; Changed 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":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:50:46.375536+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.937","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFE3 were set to 30595499; 31833172","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:50:14.297638+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.936","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TFE3 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:49:47.517191+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.935","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:49:23.707124+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3233","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFE3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:49:15.204047+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFE3: Changed 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":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:48:11.807330+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.934","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFE3: Added comment: PMID: 32409512 (2020) - 14 variants reported as de novo events in 17 unrelated cases (including 5 previously published) of severe intellectual disability with pigmentary mosaicism and storage disorder-like features; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 30595499, 31833172, 32409512; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:47:00.689767+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFE3 were set to 30595499; 31833172","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:46:09.591749+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3231","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TFE3 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:45:39.861958+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3230","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-12-03T15:43:41.686445+11:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:43:27.813865+11:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC38A8 were set to 24045842; 24290379","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:43:11.719942+11:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:38:44.108209+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC38A8 as ready","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:38:44.096571+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc38a8 has been classified as Green List (High Evidence).","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:38:29.385553+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5523","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC38A8 were changed from  to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:38:02.762349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5522","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC38A8 were set to ","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:37:44.167460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5521","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC38A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-12-03T15:25:28.296709+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPN15 as ready","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:25:28.268896+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capn15 has been classified as Green List (High Evidence).","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:25:16.185564+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPN15 as Green List (high evidence)","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:25:16.174946+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capn15 has been classified as Green List (High Evidence).","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:24:32.492884+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPN15 was added\ngene: CAPN15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPN15 were set to 32885237\nPhenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589\nReview for gene: CAPN15 was set to GREEN\nAdded comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth. \nSources: Literature","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:19:16.031129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5520","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPN15 as ready","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:19:16.023355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5520","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capn15 has been classified as Green List (High Evidence).","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:19:06.115102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5520","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPN15 as Green List (high evidence)","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T15:19:06.104308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5520","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capn15 has been classified as Green List (High Evidence).","entity_name":"CAPN15","entity_type":"gene"},{"created":"2020-12-03T13:59:15.875381+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TONSL as ready","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:59:15.864510+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tonsl has been classified as Green List (High Evidence).","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:59:09.965806+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TONSL as Green List (high evidence)","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:59:09.955595+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tonsl has been classified as Green List (High Evidence).","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:58:39.093658+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TONSL was added\ngene: TONSL was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TONSL were set to 30773277; 30773278; 32959051\nPhenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068\nReview for gene: TONSL was set to GREEN\nAdded comment: Associated with Spondyloepimetaphyseal dysplasia, sponastrime type MIM#271510 (AR) in OMIM. \r\n\r\nPMID: 30773277 - Burrage et al 2019 - identified, using WES or Sanger sequencing, compound heterozygous variants in TONSL in 9 individuals (8 families) with SPONASTRIME dysplasia. 4 other probands with SPONASTRIME dysplasia did not have biallelic variants in TONSL or in MMS22L, but two of them did have a single heterozygous variants in TONSL. The authors say they cannot exclude deep intronic, promotor variants or large intragenic rearrangements/deletions in these patients. An additional 4 individuals (3 families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities were also found to have compound heterozygous variants in TONSL. \r\n\r\nPMID: 30773278 - Chang et al 2019 - Using WES they identified homozygous or compound heterozygous TONSL variants in 10 of 13 individuals (9 families) with SPONASTRIME dysplasia. \r\n\r\nPMID: 32959051 - Micale et al 2020 - report a 9-year-old Italian girl with typical SPONASTRIME dysplasia who was found to have two novel missense variants in TONSL. Each parent was heterozygous for one of the variants. Both variants were found to be very rare in the gnomad database. Patient-derived fibroblasts show increased levels of spontaneous chromosomal breaks, reduced cell proliferation and enhanced apoptosis. \nSources: Literature","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:57:36.477582+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5519","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TONSL as ready","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:57:36.469822+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5519","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tonsl has been classified as Green List (High Evidence).","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:57:09.889172+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5519","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TONSL were changed from  to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:56:49.814319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5518","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TONSL were set to ","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:56:24.602476+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5517","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TONSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TONSL","entity_type":"gene"},{"created":"2020-12-03T13:54:09.605304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5516","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKBP8 as ready","entity_name":"FKBP8","entity_type":"gene"},{"created":"2020-12-03T13:54:09.597454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5516","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp8 has been classified as Amber List (Moderate Evidence).","entity_name":"FKBP8","entity_type":"gene"},{"created":"2020-12-03T13:53:46.263438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5516","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKBP8 as Amber List (moderate evidence)","entity_name":"FKBP8","entity_type":"gene"},{"created":"2020-12-03T13:53:46.252836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5516","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp8 has been classified as Amber List (Moderate Evidence).","entity_name":"FKBP8","entity_type":"gene"},{"created":"2020-12-03T13:52:20.919453+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5515","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPPA as Amber List (moderate evidence)","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:52:20.911701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5515","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nppa has been classified as Amber List (Moderate Evidence).","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:52:03.400819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5514","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPPA as ready","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:52:03.391651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5514","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nppa has been classified as Green List (High Evidence).","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:51:55.729296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5514","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPPA were changed from  to Atrial fibrillation, familial, 6, (MIM#612201)","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:51:35.274891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5513","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPPA were set to ","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:51:15.532152+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:50:52.677089+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPPA as ready","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:50:52.673707+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Two families and functional data, including animal models but note AF is relatively common and generally multifactorial so more evidence would be desirable for Green rating.","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:50:52.640367+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nppa has been classified as Amber List (Moderate Evidence).","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:50:34.415692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5511","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:49:09.907188+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPPA as ready","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:49:09.896675+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nppa has been classified as Amber List (Moderate Evidence).","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:48:28.278132+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPPA were changed from  to Atrial fibrillation, familial, 6, (MIM#612201)","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:47:23.015021+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPPA were set to ","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:46:52.813139+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:46:26.575817+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPPA as Amber List (moderate evidence)","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T13:46:26.565073+11:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nppa has been classified as Amber List (Moderate Evidence).","entity_name":"NPPA","entity_type":"gene"},{"created":"2020-12-03T11:10:51.241892+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; to: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.","entity_name":"USP7","entity_type":"gene"}]}