{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=26","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=24","results":[{"created":"2026-02-25T14:37:11.426759+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:37:00.693485+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:36:17.789663+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDNF were set to 31883645; 40788466","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:35:48.474789+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:35:19.423719+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDNF: Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:34:58.934734+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:33:55.420323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4449","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDNF were set to 31883645; 40788466","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:33:34.207577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4448","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDNF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:33:14.817713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4447","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDNF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:31:06.028514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4447","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDNF: Added comment: PMID 36454653: another individual with homozygous LoF variant and Kallman syndrome.; Changed publications: 31883645, 40788466, 36454653; Changed phenotypes: Hypogonadotropic hypogonadism 25 with anosmia MIM#618841","entity_name":"NDNF","entity_type":"gene"},{"created":"2026-02-25T14:24:06.287948+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4447","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAV2 were changed from Developmental delay; cerebellar hypoplasia; cerebellar dysplasia to Neurodevelopmental disorder, MONDO:0700092, NAV2-related","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T14:23:39.016266+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAV2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NAV2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T14:23:01.555969+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAV2 as ready","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T14:23:01.544292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nav2 has been classified as Amber List (Moderate Evidence).","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T14:22:56.580497+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.677","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAV2 were changed from Developmental delay; cerebellar hypoplasia; cerebellar dysplasia to Neurodevelopmental disorder, MONDO:0700092, NAV2-related","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T14:22:18.953452+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAV2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NAV2-related; Mode of inheritance: None","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T14:21:25.257314+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NAV2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-25T14:21:24.686795+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAV2 was added\ngene: NAV2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NAV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAV2 were set to PMID:35218524\nPhenotypes for gene: NAV2 were set to Developmental delay; cerebellar hypoplasia; cerebellar dysplasia","entity_name":"NAV2","entity_type":"gene"},{"created":"2026-02-25T10:34:34.526172+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.675","user_name":"Rylee Peters","item_type":"entity","text":"Marked gene: RSF1 as ready","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-25T10:34:34.516734+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.675","user_name":"Rylee Peters","item_type":"entity","text":"Gene: rsf1 has been classified as Green List (High Evidence).","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-25T10:33:54.691282+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4446","user_name":"Rylee Peters","item_type":"entity","text":"Marked gene: RSF1 as ready","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-25T10:33:54.678046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4446","user_name":"Rylee Peters","item_type":"entity","text":"Gene: rsf1 has been classified as Green List (High Evidence).","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-25T10:01:08.568326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4446","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: 32412171, 31777123, 32719652; Phenotypes: Charcot-Marie-Tooth disease type 3 MONDO:0007790, Charcot-Marie-Tooth disease type 1A MONDO:0007309, hereditary neuropathy with liability to pressure palsies MONDO:0008087; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PMP22","entity_type":"gene"},{"created":"2026-02-24T14:39:00.260043+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.536","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRRC32 were set to 30976112","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:38:42.660075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.535","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 41041957; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:38:08.794760+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRRC32 were set to PMID: 30976112","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:37:56.725336+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 41041957; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:37:27.100693+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRRC32 were set to 30976112","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:37:12.980461+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRRC32: Added comment: Further family reported in PMID 41041957 with homozygous missense.; Changed publications: 30976112, 41041957","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:36:36.372528+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.675","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRRC32 were set to 30976112","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:36:04.110984+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.674","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRRC32: Added comment: Further family reported in PMID 41041957, homozygous missense variant.; Changed publications: 30976112, 41041957","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:35:37.634605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4446","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRRC32 were set to 30976112","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T14:35:15.737857+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4445","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRRC32: Added comment: Further family reported in PMID 41041957, homozygous missense variant.; Changed publications: 30976112, 41041957","entity_name":"LRRC32","entity_type":"gene"},{"created":"2026-02-24T11:38:58.762764+11:00","panel_name":"Neurodegenerative disease - adult onset","panel_id":3374,"panel_version":"6.182","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Early-onset Parkinson disease; Ataxia; Hereditary Spastic Paraplegia; Early-onset Dementia; Motor Neurone Disease","entity_name":null,"entity_type":null},{"created":"2026-02-24T09:50:24.267979+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIR204 as ready","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:50:24.261000+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir204 has been classified as Green List (High Evidence).","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:50:13.949812+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIR204 as ready","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:50:13.941606+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir204 has been classified as Green List (High Evidence).","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:48:21.179264+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MIR204 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-24T09:48:20.989003+11:00","panel_name":"Retinitis pigmentosa","panel_id":277,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIR204 was added\ngene: MIR204 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature\nnon-coding gene tags were added to gene: MIR204.\nMode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443\nPhenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)\nMode of pathogenicity for gene: MIR204 was set to Other","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:48:17.232693+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MIR204 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-24T09:48:17.052558+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.629","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIR204 was added\ngene: MIR204 was added to Cataract. Sources: Expert Review Green,Literature\nnon-coding gene tags were added to gene: MIR204.\nMode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443\nPhenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)\nMode of pathogenicity for gene: MIR204 was set to Other","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:47:47.625448+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR204 as Red List (low evidence)","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:47:47.602129+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir204 has been classified as Red List (Low Evidence).","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:47:37.745710+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MIR204: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:47:14.438076+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MIR204 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-24T09:47:14.266544+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIR204 was added\ngene: MIR204 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Literature\nnon-coding gene tags were added to gene: MIR204.\nMode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443\nPhenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)\nMode of pathogenicity for gene: MIR204 was set to Other","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:47:11.042929+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR204 as Red List (low evidence)","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:47:11.030509+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir204 has been classified as Red List (Low Evidence).","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:46:41.334760+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MIR204: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:45:19.098431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4445","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIR204 were set to 26056285; 37321975","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:44:57.087411+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4444","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR204 as Green List (high evidence)","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:44:57.076442+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4444","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir204 has been classified as Green List (High Evidence).","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:44:39.116518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.\r\n\r\nPMID 20713703: medaka fish model recapitulates coloboma and impaired lens development.\r\n\r\nMouse model in PMID 31332443 recapitulates retinal phenotype.; to: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.\r\n\r\nPMID 20713703: medaka fish model recapitulates coloboma and impaired lens development.\r\n\r\nMouse model in PMID 31332443 recapitulates retinal phenotype.\r\n\r\nMODERATE by ClinGen.","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:44:06.784936+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.\r\n\r\nPMID 20713703: medaka fish model recapitulates coloboma and impaired lens development; to: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.\r\n\r\nPMID 20713703: medaka fish model recapitulates coloboma and impaired lens development.\r\n\r\nMouse model in PMID 31332443 recapitulates retinal phenotype.","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:43:47.539155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR204: Changed publications: 38867642, 20713703, 31332443","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:43:05.756071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR204: Changed publications: 38867642, 20713703","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:42:54.546252+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families only; to: Third family reported in PMID 38867642: variant n.37C>T segregated with disease in 4 individuals from the same family, all with coloboma, at least two with RP as well.\r\n\r\nPMID 20713703: medaka fish model recapitulates coloboma and impaired lens development","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T09:38:57.576950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR204: Changed rating: GREEN; Changed publications: 38867642; Changed phenotypes: Retinal dystrophy and iris coloboma with or without cataract (MIM#616722); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-24T08:33:37.843140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MIR204","entity_type":"gene"},{"created":"2026-02-23T11:20:06.275785+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.674","user_name":"Rylee Peters","item_type":"panel","text":"Copied gene RSF1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-23T11:20:05.732489+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.674","user_name":"Rylee Peters","item_type":"entity","text":"gene: RSF1 was added\ngene: RSF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RSF1 were set to 41606215\nPhenotypes for gene: RSF1 were set to Neurodevelopmental disorder, MONDO:0700092, RSF1-related","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-23T11:18:18.780744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: RSF1 as Green List (high evidence)","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-23T11:18:18.770446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4443","user_name":"Rylee Peters","item_type":"entity","text":"Gene: rsf1 has been classified as Green List (High Evidence).","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-23T11:18:01.677929+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4442","user_name":"Rylee Peters","item_type":"entity","text":"gene: RSF1 was added\ngene: RSF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RSF1 were set to 41606215\nPhenotypes for gene: RSF1 were set to Neurodevelopmental disorder, MONDO:0700092, RSF1-related\nReview for gene: RSF1 was set to GREEN\nAdded comment: PMID: 41606215 describes 11 individuals from 11 unrelated families with heterozygous RSF1 variants causing a syndromic neurodevelopmental disorder with intellectual disability or limit scores (7/11), ASD (4/11) and developmental delay (6/11). Other features described include dysmorphism (5/7), variable macro‑/microcephaly (3/6), epilepsy (2/7), and brain MRI anomalies (2/4). Majority of the variants are de novo, one was inherited from a mosaic mother and another inherited from an affected father. \nSources: Literature","entity_name":"RSF1","entity_type":"gene"},{"created":"2026-02-22T18:28:49.330407+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.535","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GINS3 as ready","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:28:49.323307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.535","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gins3 has been classified as Green List (High Evidence).","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:28:46.263842+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.535","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:28:26.319687+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.534","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GINS3 as Green List (high evidence)","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:28:26.309932+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.534","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gins3 has been classified as Green List (High Evidence).","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:28:12.991981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.533","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:27:43.324122+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:26:57.783678+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:26:46.540027+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.416","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:26:12.039842+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:25:51.417123+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:25:23.148060+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:25:05.652431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4441","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome, MONDO:0016817, GINS3-related to Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T18:24:42.659396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4440","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GINS3: Changed phenotypes: Meier-Gorlin syndrome 9, MIM# 621512","entity_name":"GINS3","entity_type":"gene"},{"created":"2026-02-22T16:18:01.088721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4440","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CFAP70 was added\ngene: CFAP70 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP70 were set to 31621862\nPhenotypes for gene: CFAP70 were set to spermatogenic failure MONDO:0004983\nReview for gene: CFAP70 was set to RED\nAdded comment: A single case reported. \nSources: Literature","entity_name":"CFAP70","entity_type":"gene"},{"created":"2026-02-22T16:10:46.590528+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.113","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene QRICH2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-22T16:10:46.497309+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.113","user_name":"Bryony Thompson","item_type":"entity","text":"gene: QRICH2 was added\ngene: QRICH2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: QRICH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QRICH2 were set to 30683861; 31292949\nPhenotypes for gene: QRICH2 were set to spermatogenic failure MONDO:0004983","entity_name":"QRICH2","entity_type":"gene"},{"created":"2026-02-22T16:10:25.587056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4439","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: QRICH2 as Green List (high evidence)","entity_name":"QRICH2","entity_type":"gene"},{"created":"2026-02-22T16:10:25.576732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4439","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: qrich2 has been classified as Green List (High Evidence).","entity_name":"QRICH2","entity_type":"gene"},{"created":"2026-02-22T16:10:07.421891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4438","user_name":"Bryony Thompson","item_type":"entity","text":"gene: QRICH2 was added\ngene: QRICH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: QRICH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QRICH2 were set to 30683861; 31292949\nPhenotypes for gene: QRICH2 were set to spermatogenic failure MONDO:0004983\nReview for gene: QRICH2 was set to GREEN\nAdded comment: At least 4 unrelated men and a supporting mouse model. \nSources: Literature","entity_name":"QRICH2","entity_type":"gene"},{"created":"2026-02-22T16:08:04.209344+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.331","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TMTC4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-22T16:08:04.029010+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.331","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMTC4 was added\ngene: TMTC4 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: TMTC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMTC4 were set to 37943620\nPhenotypes for gene: TMTC4 were set to hearing loss, autosomal recessive MONDO:0019588","entity_name":"TMTC4","entity_type":"gene"},{"created":"2026-02-22T16:06:47.387888+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4437","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMTC4 was added\ngene: TMTC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMTC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMTC4 were set to 37943620\nPhenotypes for gene: TMTC4 were set to hearing loss, autosomal recessive MONDO:0019588\nReview for gene: TMTC4 was set to RED\nAdded comment: A single family reported and a supporting mouse model \nSources: Literature","entity_name":"TMTC4","entity_type":"gene"},{"created":"2026-02-22T16:03:55.783161+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.112","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene WDR66 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-22T16:03:55.680179+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.112","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR66 was added\ngene: WDR66 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nnew gene name tags were added to gene: WDR66.\nMode of inheritance for gene: WDR66 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR66 were set to 30122540; 30122541\nPhenotypes for gene: WDR66 were set to spermatogenic failure MONDO:0004983","entity_name":"WDR66","entity_type":"gene"},{"created":"2026-02-22T16:03:00.079156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4436","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR66 as Green List (high evidence)","entity_name":"WDR66","entity_type":"gene"},{"created":"2026-02-22T16:03:00.067957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4436","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr66 has been classified as Green List (High Evidence).","entity_name":"WDR66","entity_type":"gene"},{"created":"2026-02-22T16:02:39.967199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4435","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR66 was added\ngene: WDR66 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: WDR66.\nMode of inheritance for gene: WDR66 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR66 were set to 30122540; 30122541\nPhenotypes for gene: WDR66 were set to spermatogenic failure MONDO:0004983\nReview for gene: WDR66 was set to GREEN\nAdded comment: At least 10 families/men reported. \nSources: Literature","entity_name":"WDR66","entity_type":"gene"},{"created":"2026-02-22T15:54:36.757284+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TUBA3D from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-22T15:54:36.403933+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TUBA3D was added\ngene: TUBA3D was added to Corneal Dystrophy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TUBA3D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA3D were set to 29051577\nPhenotypes for gene: TUBA3D were set to keratoconus MONDO:0015486","entity_name":"TUBA3D","entity_type":"gene"},{"created":"2026-02-22T15:53:19.011418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4434","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TUBA3D as Amber List (moderate evidence)","entity_name":"TUBA3D","entity_type":"gene"},{"created":"2026-02-22T15:53:19.004120+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4434","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tuba3d has been classified as Amber List (Moderate Evidence).","entity_name":"TUBA3D","entity_type":"gene"},{"created":"2026-02-22T15:53:00.976975+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4433","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TUBA3D was added\ngene: TUBA3D was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TUBA3D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA3D were set to 29051577\nPhenotypes for gene: TUBA3D were set to keratoconus MONDO:0015486\nReview for gene: TUBA3D was set to AMBER\nAdded comment: 4 cases (including twins) with 2 variants. Functional analysis showed that the mutant proteins led to higher expression of matrix metalloproteinase genes and higher levels of oxidative stress, which the authors suggested would reduce extracellular matrix in the corneas and contribute to stromal thinning. \nSources: Literature","entity_name":"TUBA3D","entity_type":"gene"},{"created":"2026-02-22T15:47:42.230650+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ZFHX2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-22T15:47:42.121469+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ZFHX2 was added\ngene: ZFHX2 was added to Pain syndromes. Sources: Literature\nMode of inheritance for gene: ZFHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFHX2 were set to 29253101\nPhenotypes for gene: ZFHX2 were set to congenital insensitivity to pain syndrome, Marsili type MONDO:0958106","entity_name":"ZFHX2","entity_type":"gene"}]}