{"count":220467,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=76","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=74","results":[{"created":"2025-12-24T15:22:48.047832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from Coloboma of optic nerve - MIM# 120430; Coloboma, ocular - MIM#120200; Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550 to PAX6-related ocular dysgenesis MONDO:0800183","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:22:23.549594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3859","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:20:12.624334+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550 to PAX6-related ocular dysgenesis MONDO:0800183","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:19:40.065398+11:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:19:15.927830+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in PAX6 cause a range of eye phenotypes.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nCartwheel cataract is a characteristic feature.; to: Variants in PAX6 cause a range of eye phenotypes, which have been lumped by ClinGen. DEFINITIVE gene-disease association.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nCartwheel cataract is a characteristic feature.","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:18:52.371163+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in PAX6 cause a range of eye phenotypes.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nMultiple families reported with coloboma.; to: Variants in PAX6 cause a range of eye phenotypes.\r\n\r\nPMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.\r\n\r\nCartwheel cataract is a characteristic feature.","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:18:29.836187+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:18:29.828245+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Green List (High Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:17:00.351775+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from  to PAX6-related ocular dysgenesis MONDO:0800183","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:13:06.102291+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX6 were set to ","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:11:47.522955+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:11:17.893207+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PAX6: Changed phenotypes: PAX6-related ocular dysgenesis MONDO:0800183","entity_name":"PAX6","entity_type":"gene"},{"created":"2025-12-24T15:10:41.584223+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene PAX6 from panel Anophthalmia_Microphthalmia_Coloboma","entity_name":null,"entity_type":null},{"created":"2025-12-24T15:08:22.322678+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA3 as ready","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:08:22.311487+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa3 has been classified as Green List (High Evidence).","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:08:19.459376+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA3 were changed from  to Optic atrophy 3 with cataract, MIM#165300","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:07:51.546430+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPA3 were set to ","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:07:31.030992+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:07:02.355510+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Nine families reported in the literature with a dominant disorder, which includes cataract. Variants are missense.; to: Nine families reported in the literature with a dominant disorder, which includes cataract. Variants are missense.\r\n\r\nMODERATE by ClinGen.","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:06:47.949960+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OPA3: Changed publications: 39166438, 25159689, 28050599, 22797356, 31119193, 24136862, 15342707","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:05:20.577326+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166438, 25159689; Phenotypes: Optic atrophy 3 with cataract, MIM#165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OPA3","entity_type":"gene"},{"created":"2025-12-24T15:02:14.742422+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCRL as ready","entity_name":"OCRL","entity_type":"gene"},{"created":"2025-12-24T15:02:14.731002+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ocrl has been classified as Green List (High Evidence).","entity_name":"OCRL","entity_type":"gene"},{"created":"2025-12-24T15:02:08.724516+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCRL were changed from  to Oculocerebrorenal syndrome MONDO:0010645","entity_name":"OCRL","entity_type":"gene"},{"created":"2025-12-24T15:01:46.908520+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.461","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OCRL","entity_type":"gene"},{"created":"2025-12-24T15:01:22.435908+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocerebrorenal syndrome MONDO:0010645; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OCRL","entity_type":"gene"},{"created":"2025-12-24T13:26:01.242169+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH9 as ready","entity_name":"MYH9","entity_type":"gene"},{"created":"2025-12-24T13:26:01.230220+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh9 has been classified as Green List (High Evidence).","entity_name":"MYH9","entity_type":"gene"},{"created":"2025-12-24T13:25:58.774990+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH9 were changed from  to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100","entity_name":"MYH9","entity_type":"gene"},{"created":"2025-12-24T13:25:38.187130+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH9 were set to ","entity_name":"MYH9","entity_type":"gene"},{"created":"2025-12-24T13:25:15.838663+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2025-12-24T13:24:47.529615+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.457","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 40534807; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH9","entity_type":"gene"},{"created":"2025-12-24T13:22:37.514115+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.457","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIP as ready","entity_name":"MIP","entity_type":"gene"},{"created":"2025-12-24T13:22:37.506454+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.457","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mip has been classified as Green List (High Evidence).","entity_name":"MIP","entity_type":"gene"},{"created":"2025-12-24T13:22:35.104817+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.457","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MIP were changed from  to Cataract 15, multiple types, MIM# 615274","entity_name":"MIP","entity_type":"gene"},{"created":"2025-12-24T13:22:07.998464+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIP were set to ","entity_name":"MIP","entity_type":"gene"},{"created":"2025-12-24T13:21:41.381819+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MIP","entity_type":"gene"},{"created":"2025-12-24T13:21:13.318133+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene MIP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-24T13:17:56.635144+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAN2B1 as ready","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-12-24T13:17:56.627335+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: man2b1 has been classified as Green List (High Evidence).","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-12-24T13:17:54.563609+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAN2B1 were changed from  to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-12-24T13:17:30.478819+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAN2B1 were set to ","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-12-24T13:16:53.701674+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.451","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-12-24T13:16:29.322765+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment.; to: Well established gene-disease association. Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment.\r\n\r\nLenticular spoke-like opacities are part of the phenotype.","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2025-12-24T13:16:05.784826+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene MAN2B1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-24T13:14:40.257322+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LSS as ready","entity_name":"LSS","entity_type":"gene"},{"created":"2025-12-24T13:14:40.246502+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lss has been classified as Green List (High Evidence).","entity_name":"LSS","entity_type":"gene"},{"created":"2025-12-24T13:14:05.317302+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP27A1 as ready","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2025-12-24T13:14:05.309902+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp27a1 has been classified as Green List (High Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2025-12-24T13:14:02.722155+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP27A1 were changed from  to Cerebrotendinous xanthomatosis MIM#213700","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2025-12-24T13:13:38.985981+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP27A1 were set to ","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2025-12-24T13:13:11.436645+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.447","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2025-12-24T13:12:46.941726+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2025-12-23T18:41:45.382835+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3859","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAF were changed from Ayme-Gripp syndrome (MIM#601088) to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:41:27.838203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3858","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAF were set to 30160832; 34643041","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:40:49.020204+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAF as ready","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:40:49.012787+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maf has been classified as Green List (High Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:40:46.133153+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAF were changed from  to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:40:20.585831+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.444","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAF were set to ","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:39:53.658865+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:39:38.402383+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3857","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene MAF from panel Cataract","entity_name":null,"entity_type":null},{"created":"2025-12-23T18:39:13.845336+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927621; Phenotypes: Cataract 21, multiple types, MIM# 610202, Ayme-Gripp syndrome, MIM# 601088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2025-12-23T18:34:57.562699+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP5K as ready","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:34:57.555000+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp5k has been classified as Green List (High Evidence).","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:34:55.561277+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP5K were changed from  to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:34:29.043833+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.441","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP5K were set to ","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:33:54.463290+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:33:25.209260+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: INPP5K.","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:33:15.176784+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INPP5K as ready","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:33:15.168685+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: inpp5k has been classified as Green List (High Evidence).","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:33:12.504877+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INPP5K were changed from  to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:32:43.310723+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.114","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INPP5K were set to ","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:32:07.851884+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:31:42.090144+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: INPP5K.","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:31:40.901588+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene INPP5K from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-23T18:31:15.768859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3856","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: INPP5K.","entity_name":"INPP5K","entity_type":"gene"},{"created":"2025-12-23T18:30:35.221025+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HMX1 as ready","entity_name":"HMX1","entity_type":"gene"},{"created":"2025-12-23T18:30:35.206574+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hmx1 has been classified as Green List (High Evidence).","entity_name":"HMX1","entity_type":"gene"},{"created":"2025-12-23T18:30:30.012591+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HMX1 were changed from  to Oculoauricular syndrome, MIM#612109","entity_name":"HMX1","entity_type":"gene"},{"created":"2025-12-23T18:30:05.136850+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.437","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HMX1 were set to ","entity_name":"HMX1","entity_type":"gene"},{"created":"2025-12-23T18:29:39.824646+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HMX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HMX1","entity_type":"gene"},{"created":"2025-12-23T18:29:04.498476+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.435","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene HMX1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-23T18:27:47.321794+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNPAT as ready","entity_name":"GNPAT","entity_type":"gene"},{"created":"2025-12-23T18:27:47.314489+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnpat has been classified as Green List (High Evidence).","entity_name":"GNPAT","entity_type":"gene"},{"created":"2025-12-23T18:27:42.163185+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPAT were changed from  to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765","entity_name":"GNPAT","entity_type":"gene"},{"created":"2025-12-23T18:27:12.281672+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.433","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPAT","entity_type":"gene"},{"created":"2025-12-23T18:26:43.516159+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPAT","entity_type":"gene"},{"created":"2025-12-23T18:25:47.863478+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALT as ready","entity_name":"GALT","entity_type":"gene"},{"created":"2025-12-23T18:25:47.853188+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galt has been classified as Green List (High Evidence).","entity_name":"GALT","entity_type":"gene"},{"created":"2025-12-23T18:24:09.968894+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALT were changed from  to Galactosaemia, MIM# 230400","entity_name":"GALT","entity_type":"gene"},{"created":"2025-12-23T18:19:44.398493+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALT","entity_type":"gene"},{"created":"2025-12-23T18:17:25.949926+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA3 as ready","entity_name":"GJA3","entity_type":"gene"},{"created":"2025-12-23T18:17:25.941503+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja3 has been classified as Green List (High Evidence).","entity_name":"GJA3","entity_type":"gene"},{"created":"2025-12-23T18:15:34.975324+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA3 were changed from  to Cataract 14, multiple types MIM#601885","entity_name":"GJA3","entity_type":"gene"},{"created":"2025-12-23T18:15:07.716254+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJA3 were set to ","entity_name":"GJA3","entity_type":"gene"},{"created":"2025-12-23T18:14:23.726252+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA3","entity_type":"gene"},{"created":"2025-12-23T18:13:36.787837+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.427","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GJA3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-23T18:11:14.524735+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosaemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALT","entity_type":"gene"},{"created":"2025-12-23T18:09:34.732072+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALK1 as ready","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-23T18:09:34.724273+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"}]}