{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=36","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=34","results":[{"created":"2026-02-08T18:25:53.030223+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA1109 as Green List (high evidence)","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2026-02-08T18:25:53.021012+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa1109 has been classified as Green List (High Evidence).","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2026-02-08T18:25:23.584214+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.567","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIAA1109 was added\ngene: KIAA1109 was added to Cataract. Sources: Literature\nMode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1109 were set to 29290337\nPhenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM#\t617822\nReview for gene: KIAA1109 was set to GREEN\nAdded comment: PMID 29290337 reports 19 individuals from 10 unrelated families with autosomal‑recessive biallelic loss‑of‑function or hypomorphic missense variants in KIAA1109. Core features include severe brain malformations, arthrogryposis, microphthalmia and bilateral congenital cataract, plus cardiac, renal and limb anomalies. Functional studies in mouse, Drosophila and zebrafish demonstrate loss‑of‑function phenotypes that recapitulate the human disorder, supporting a loss‑of‑function (biallelic) disease mechanism. \nSources: Literature","entity_name":"KIAA1109","entity_type":"gene"},{"created":"2026-02-08T18:23:23.935680+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS2 as ready","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:23:23.927695+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars2 has been classified as Green List (High Evidence).","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:23:15.142855+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cataracts are a core feature of the condition. \nSources: Literature; to: Deafness is a core feature of the condition. \r\nSources: Literature","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:22:51.285687+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene IARS2 from panel Cataract","entity_name":null,"entity_type":null},{"created":"2026-02-08T18:22:48.416135+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IARS2 was added\ngene: IARS2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature\nMode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007\nPhenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#\t616007","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:21:49.625343+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS2 as ready","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:21:49.618446+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars2 has been classified as Green List (High Evidence).","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:21:42.491916+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IARS2 as Green List (high evidence)","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:21:42.484866+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars2 has been classified as Green List (High Evidence).","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:21:13.370898+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IARS2 was added\ngene: IARS2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007\nPhenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#\t616007\nReview for gene: IARS2 was set to GREEN\nAdded comment: Cataracts are a core feature of the condition. \nSources: Literature","entity_name":"IARS2","entity_type":"gene"},{"created":"2026-02-08T18:19:42.839032+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2026-02-08T18:19:42.829328+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2026-02-08T18:10:01.077517+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAS as Green List (high evidence)","entity_name":"GNAS","entity_type":"gene"},{"created":"2026-02-08T18:10:01.069808+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2026-02-08T18:09:30.383368+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to Cataract. Sources: Literature\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GNAS were set to 29136292; 26387561\nPhenotypes for gene: GNAS were set to Disorder of GNAS inactivation MONDO:0800466\nReview for gene: GNAS was set to GREEN\nAdded comment: PMID 29136292 reports 10 unrelated families with heterozygous loss‑of‑function GNAS variants and cataract in 56% of pseudohypoparathyroidism patients; PMID 26387561 reports 4 unrelated families with GNAS mutations, 2 of which have cataract. Combined, at least 14 unrelated families (20 patients) show cataract associated with pseudohypoparathyroidism. \nSources: Literature","entity_name":"GNAS","entity_type":"gene"},{"created":"2026-02-08T17:57:18.250043+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA2 as ready","entity_name":"GBA2","entity_type":"gene"},{"created":"2026-02-08T17:57:18.239218+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Green List (High Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2026-02-08T17:57:13.613410+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA2 as Green List (high evidence)","entity_name":"GBA2","entity_type":"gene"},{"created":"2026-02-08T17:57:13.605816+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Green List (High Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2026-02-08T17:56:47.373962+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA2 was added\ngene: GBA2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA2 were set to 38334933; 28052128\nPhenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, MIM#\t614409\nReview for gene: GBA2 was set to GREEN\nAdded comment: Multiple individuals reported with cataract. \nSources: Literature","entity_name":"GBA2","entity_type":"gene"},{"created":"2026-02-08T17:44:20.426650+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.560","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2026-02-08T17:44:20.417475+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.560","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2026-02-08T17:44:16.102709+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.560","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC5 as Green List (high evidence)","entity_name":"ERCC5","entity_type":"gene"},{"created":"2026-02-08T17:44:16.095177+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.560","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2026-02-08T17:43:47.714541+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.559","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC5 was added\ngene: ERCC5 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC5 were set to 33766032; 32557569\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G/Cockayne syndrome, MIM#\t278780\nReview for gene: ERCC5 was set to GREEN\nAdded comment: Cataracts are a reported feature. \nSources: Literature","entity_name":"ERCC5","entity_type":"gene"},{"created":"2026-02-08T17:42:06.215451+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EBP as ready","entity_name":"EBP","entity_type":"gene"},{"created":"2026-02-08T17:42:06.208770+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebp has been classified as Green List (High Evidence).","entity_name":"EBP","entity_type":"gene"},{"created":"2026-02-08T17:42:01.207142+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EBP as Green List (high evidence)","entity_name":"EBP","entity_type":"gene"},{"created":"2026-02-08T17:42:01.195334+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebp has been classified as Green List (High Evidence).","entity_name":"EBP","entity_type":"gene"},{"created":"2026-02-08T17:41:31.454209+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.557","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EBP was added\ngene: EBP was added to Cataract. Sources: Literature\nMode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: EBP were set to 33147667; 29851033; 25846959; 25814754\nPhenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM#\t302960; MEND syndrome, MIM#\t300960\nReview for gene: EBP was set to GREEN\nAdded comment: Cataracts are a feature of both conditions associated with this gene. \nSources: Literature","entity_name":"EBP","entity_type":"gene"},{"created":"2026-02-08T17:38:41.379757+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked STR: DMPK_DM1_CTG as ready","entity_name":"DMPK_DM1_CTG","entity_type":"str"},{"created":"2026-02-08T17:38:41.370587+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Str: dmpk_dm1_ctg has been classified as Green List (High Evidence).","entity_name":"DMPK_DM1_CTG","entity_type":"str"},{"created":"2026-02-08T17:38:05.539086+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"panel","text":"Copied STR DMPK_DM1_CTG from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-08T17:38:05.372549+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"STR: DMPK_DM1_CTG was added\nSTR: DMPK_DM1_CTG was added to Cataract. Sources: Expert Review Green,Expert list\nMode of inheritance for STR: DMPK_DM1_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DMPK_DM1_CTG were set to 20301344; 29325606\nPhenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900","entity_name":"DMPK_DM1_CTG","entity_type":"str"},{"created":"2026-02-08T17:03:03.319021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4269","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMP3 were set to 40023045; 34161347","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:02:43.606774+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4268","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMP3 as Green List (high evidence)","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:02:43.599962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp3 has been classified as Green List (High Evidence).","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:02:08.293875+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMP3 were set to 40023045; 34161347","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:01:40.296777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4267","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMP3: Added comment: PMID 41653023 reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:01:15.486163+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMP3 as Green List (high evidence)","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:01:15.470833+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp3 has been classified as Green List (High Evidence).","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T17:00:47.590839+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMP3: Added comment: PMID 41653023  reports 13 individuals with biallelic variants in LAMP3, presenting with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants had ground glass opacities early in life and lung fibrosis later in life.; Changed rating: GREEN; Changed publications: 40023045, 34161347, 41653023","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T14:24:50.168272+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.3","user_name":"Renee Santoreneos","item_type":"entity","text":"Deleted their review","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-08T14:02:04.827190+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.3","user_name":"Renee Santoreneos","item_type":"entity","text":"reviewed gene: LAMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: GIM 102531, 40023045, 34161347; Phenotypes: Interstitial lung disease, MONDO:0015925, LAMP3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMP3","entity_type":"gene"},{"created":"2026-02-07T21:30:13.183096+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.138","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RAD51C as Amber List (moderate evidence)","entity_name":"RAD51C","entity_type":"gene"},{"created":"2026-02-07T21:30:13.174439+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.138","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rad51c has been classified as Amber List (Moderate Evidence).","entity_name":"RAD51C","entity_type":"gene"},{"created":"2026-02-07T19:22:39.697389+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4267","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CPT1C.","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:22:14.955164+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CPT1C were set to 25751282; 23973755; 30564185","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:21:54.995916+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPT1C as Amber List (moderate evidence)","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:21:54.988542+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt1c has been classified as Amber List (Moderate Evidence).","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:21:37.089593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4265","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CPT1C: Added comment: Disputed in PMID 41312619: among >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, there were no patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carried pathogenic variants in established HSP-associated genes.; Changed rating: AMBER; Changed publications: 30564185, 41312619","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:21:01.963813+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPT1C as ready","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:21:01.953142+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt1c has been classified as Amber List (Moderate Evidence).","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:20:55.621887+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CPT1C were set to 25751282; 30911584; 30564185; 23973755","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:20:29.402714+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CPT1C.","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:20:18.911961+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPT1C as Amber List (moderate evidence)","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:20:18.903414+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt1c has been classified as Amber List (Moderate Evidence).","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T19:20:01.156463+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CPT1C: Added comment: Disputed in PMID 41312619: among >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, there were no patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carried pathogenic variants in established HSP-associated genes.; Changed rating: AMBER; Changed publications: 30564185, 41312619","entity_name":"CPT1C","entity_type":"gene"},{"created":"2026-02-07T17:48:51.657777+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPAMD8 as ready","entity_name":"CPAMD8","entity_type":"gene"},{"created":"2026-02-07T17:48:51.650836+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpamd8 has been classified as Green List (High Evidence).","entity_name":"CPAMD8","entity_type":"gene"},{"created":"2026-02-07T17:48:47.130211+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CPAMD8 as Green List (high evidence)","entity_name":"CPAMD8","entity_type":"gene"},{"created":"2026-02-07T17:48:47.119933+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpamd8 has been classified as Green List (High Evidence).","entity_name":"CPAMD8","entity_type":"gene"},{"created":"2026-02-07T17:48:19.070407+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CPAMD8 was added\ngene: CPAMD8 was added to Cataract. Sources: Literature\nMode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPAMD8 were set to 39747279; 32085876; 27839872\nPhenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM#\t617319\nReview for gene: CPAMD8 was set to GREEN\nAdded comment: Multiple reports of cataract as part of the ocular phenotype associated with this condition. \nSources: Literature","entity_name":"CPAMD8","entity_type":"gene"},{"created":"2026-02-07T17:45:56.623412+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A5 as ready","entity_name":"COL4A5","entity_type":"gene"},{"created":"2026-02-07T17:45:56.615621+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2026-02-07T17:45:46.518558+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A5 as Green List (high evidence)","entity_name":"COL4A5","entity_type":"gene"},{"created":"2026-02-07T17:45:46.511382+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2026-02-07T17:45:08.136534+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A5 was added\ngene: COL4A5 was added to Cataract. Sources: Literature\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: COL4A5 were set to 37162688; 33015404; 32883240\nPhenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM#\t301050\nReview for gene: COL4A5 was set to GREEN\nAdded comment: PMIDs 32883240, 33015404 and 37162688 report three unrelated families with X‑linked Alport syndrome presenting with cataract (often with anterior lenticonus and other ocular anomalies). Cataract is part of the ocular abnormalities observed in Alport syndrome. \nSources: Literature","entity_name":"COL4A5","entity_type":"gene"},{"created":"2026-02-07T17:42:53.351751+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Marked STR: CNBP_DM2_CCTG as ready","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2026-02-07T17:42:53.344608+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Str: cnbp_dm2_cctg has been classified as Green List (High Evidence).","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2026-02-07T17:42:49.532654+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2026-02-07T17:42:10.568995+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed STR: CNBP_DM2_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 37123986, 34024776, 29086017, 28491317; Phenotypes: Myotonic dystrophy 2 MIM#602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2026-02-07T17:41:10.522306+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"panel","text":"Copied STR CNBP_DM2_CCTG from panel Repeat Disorders","entity_name":null,"entity_type":null},{"created":"2026-02-07T17:41:10.379966+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"STR: CNBP_DM2_CCTG was added\nSTR: CNBP_DM2_CCTG was added to Cataract. Sources: Expert Review Green,Expert list\nadult-onset tags were added to STR: CNBP_DM2_CCTG.\nMode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088\nPhenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668","entity_name":"CNBP_DM2_CCTG","entity_type":"str"},{"created":"2026-02-07T17:38:22.651494+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2026-02-07T17:38:22.636643+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2026-02-07T17:38:18.507967+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLPB as Green List (high evidence)","entity_name":"CLPB","entity_type":"gene"},{"created":"2026-02-07T17:38:18.500291+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2026-02-07T17:37:49.422228+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLPB was added\ngene: CLPB was added to Cataract. Sources: Literature\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPB were set to 37548286; 36074910; 28687938; 25597510\nPhenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM#\t616271\nReview for gene: CLPB was set to GREEN\nAdded comment: PMIDs 25595726, 25597510, 25597511, 28687938, 36074910 and 37548286 collectively report 35 individuals from 21 unrelated families with biallelic loss‑of‑function CLPB variants presenting with congenital cataracts, neutropenia, 3‑methylglutaconic aciduria and multisystem neurodevelopmental impairment. \nSources: Literature","entity_name":"CLPB","entity_type":"gene"},{"created":"2026-02-07T17:31:47.358522+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2026-02-07T17:31:47.348701+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2026-02-07T17:31:38.663405+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD7 as Amber List (moderate evidence)","entity_name":"CHD7","entity_type":"gene"},{"created":"2026-02-07T17:31:38.650209+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Amber List (Moderate Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2026-02-07T17:31:06.282623+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD7 was added\ngene: CHD7 was added to Cataract. Sources: Literature\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHD7 were set to 38597178; 32436650\nPhenotypes for gene: CHD7 were set to CHARGE syndrome, MIM#\t214800\nReview for gene: CHD7 was set to AMBER\nAdded comment: PMID 38597178 reports six unrelated individuals (six families) with heterozygous loss‑of‑function CHD7 variants presenting with CHARGE syndrome and cataract, with detailed ophthalmic phenotyping; PMID 32436650 reports one additional individual (one family) with CHARGE syndrome and cataract caused by a heterozygous missense CHD7 variant.\r\n\r\nOverall, cataract is present in a small proportion of affected individuals. \nSources: Literature","entity_name":"CHD7","entity_type":"gene"},{"created":"2026-02-07T17:28:34.942873+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPF as ready","entity_name":"CENPF","entity_type":"gene"},{"created":"2026-02-07T17:28:34.932776+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpf has been classified as Amber List (Moderate Evidence).","entity_name":"CENPF","entity_type":"gene"},{"created":"2026-02-07T17:28:29.895350+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CENPF as Amber List (moderate evidence)","entity_name":"CENPF","entity_type":"gene"},{"created":"2026-02-07T17:28:29.885373+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpf has been classified as Amber List (Moderate Evidence).","entity_name":"CENPF","entity_type":"gene"},{"created":"2026-02-07T17:28:03.158084+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CENPF was added\ngene: CENPF was added to Cataract. Sources: Literature\nMode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPF were set to 26820108\nPhenotypes for gene: CENPF were set to Stromme syndrome, MIM#\t243605\nReview for gene: CENPF was set to AMBER\nAdded comment: PMID 26820108 reports 4 individuals from 2 families with biallelic truncating CENPF variants presenting with Strømme syndrome, which includes congenital cataract, microphthalmia, intestinal atresia, and microcephaly. Cataracts not consistently reported in other affected individuals. \nSources: Literature","entity_name":"CENPF","entity_type":"gene"},{"created":"2026-02-07T17:23:52.108175+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPN15 as ready","entity_name":"CAPN15","entity_type":"gene"},{"created":"2026-02-07T17:23:52.097422+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.543","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":"2026-02-07T17:23:46.930959+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPN15 as Green List (high evidence)","entity_name":"CAPN15","entity_type":"gene"},{"created":"2026-02-07T17:23:46.923621+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.543","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":"2026-02-07T17:23:19.883968+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPN15 was added\ngene: CAPN15 was added to Cataract. 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 Oculogastrointestinal neurodevelopmental syndrome, MIM#\t619318\nReview for gene: CAPN15 was set to GREEN\nAdded comment: PMID 32885237 reports five individuals from four unrelated families with biallelic missense CAPN15 variants presenting with congenital ocular anomalies (microphthalmia, coloboma, cataract), growth delay, developmental delay, autism and sensorineural hearing loss. Segregation confirms autosomal recessive inheritance. Capn15 knockout mice recapitulate eye anomalies and reduced growth, supporting pathogenicity. \nSources: Literature","entity_name":"CAPN15","entity_type":"gene"},{"created":"2026-02-07T17:21:40.221392+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD3A as ready","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2026-02-07T17:21:40.214581+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad3a has been classified as Green List (High Evidence).","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2026-02-07T17:21:35.688698+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATAD3A as Green List (high evidence)","entity_name":"ATAD3A","entity_type":"gene"}]}