{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=143","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=141","results":[{"created":"2025-10-28T07:52:03.831241+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria1 has been classified as Green List (High Evidence).","entity_name":"GRIA1","entity_type":"gene"},{"created":"2025-10-28T07:40:25.569261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3477","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPT1 were set to 31752325; 30244537; 28594066; 28645153; 33199448; 33199448","entity_name":"PNPT1","entity_type":"gene"},{"created":"2025-10-28T07:39:55.772649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3476","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PNPT1: Added comment: Additional reports for association between mono allelic variants and SCA:\r\n\r\nPMID:39729134 (2024) reported an 11-year-old male of Indian descent with childhood-onset ataxia and severe sensorineural hearing loss. Genetic analysis identified heterozygous 3' splice site variant in the PNPT1 gene (c.2014-3 C > G).\r\n\r\nPMID:39899068 (2025) reported a 1-year-8-month-old female proband of Brazilian descent with Spinocerebellar Ataxia 25 that presented with progressive ataxia, cerebellar atrophy, and sensory neuropathy. She was identified with a novel heterozygous truncating variant in PNPT1 (c.2068del), which she inherited from her father. Although the father was previously reported as asymptomatic, he was affected with axonal and demyelinating polyneuropathy but not ataxia upon detailed examination.\r\n\r\nPMID:39924761 (2025) reported two unrelated families, where all individuals presented with sensory ataxic neuropathy (SAN), while some individuals developed cerebellar signs. Analysis of WGS variant data through the 100,000 Genomes Project identified two different heterozygous variants in these families. Family 1 underwent a 'quad' study and the previously reported c.2014‐3C>G variant segregated in all affected family members and was absent in all unaffected family members. Sanger sequencing confirmed segregation in two other individuals. c.2014‐3C>G is the same variant that was found in the 3-generation Australian family reported by PMID:35411967, where unaffected family members harboured the variant. A novel nonsense variant (c.2143C>T/ p.Arg715Ter) was found in both affected members of Family 2.\r\n\r\nPMID:40757543 (2024) reported an 18-year-old male presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. The patient was identified with a heterozygous pathogenic variant c.162-1G>A in PNPT1 gene.; Changed rating: GREEN; Changed publications: 35411967, 39729134, 39899068, 39924761, 40757543","entity_name":"PNPT1","entity_type":"gene"},{"created":"2025-10-27T17:59:05.969504+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PRKDC from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T17:59:05.761180+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRKDC was added\ngene: PRKDC was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKDC were set to 19075392; 23722905\nPhenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Absent T and B cells; normal NK cells; SCID; recurrent respiratory infections; microcephaly; seizures; developmental delay","entity_name":"PRKDC","entity_type":"gene"},{"created":"2025-10-27T17:57:07.407042+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NUDCD3 from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T17:57:07.196522+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NUDCD3 was added\ngene: NUDCD3 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Literature\nMode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD3 were set to PMID: 38787962\nPhenotypes for gene: NUDCD3 were set to Severe combined immunodeficiency; omenn syndrome","entity_name":"NUDCD3","entity_type":"gene"},{"created":"2025-10-27T17:55:54.613197+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NHEJ1 from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T17:55:54.457395+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NHEJ1 was added\ngene: NHEJ1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHEJ1 were set to 16439204; 16439205\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2025-10-27T17:31:12.029614+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene LIG4 from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T17:31:11.853889+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LIG4 was added\ngene: LIG4 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\ntreatable tags were added to gene: LIG4.\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG4 were set to 27717373; 10911993\nPhenotypes for gene: LIG4 were set to LIG4 syndrome MIM# 606593; T-/B-lymphocytopaenia; Normal NK, radiation sensitivity; Microcephaly; absent/low B and T cells; low Ig; raised IgM; failure to thrive; bacterial/viral/fungal infections; hypogammaglobulinaemia; neurodevelopmental delay; microcephaly; pancytopaenia","entity_name":"LIG4","entity_type":"gene"},{"created":"2025-10-27T16:59:32.423387+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene LIG1 from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T16:59:32.254057+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LIG1 was added\ngene: LIG1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Literature\nMode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG1 were set to PMID: 33025376; PMID: 36341401\nPhenotypes for gene: LIG1 were set to Immunodeficiency 96, MIM# 619774","entity_name":"LIG1","entity_type":"gene"},{"created":"2025-10-27T16:58:13.918801+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DCLRE1C from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T16:58:13.763251+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DCLRE1C was added\ngene: DCLRE1C was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert list,Expert Review Green\nMode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCLRE1C were set to 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179\nPhenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2025-10-27T16:56:41.951662+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene AK2 from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T16:56:41.768837+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AK2 was added\ngene: AK2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\ntreatable tags were added to gene: AK2.\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK2 were set to 19043417; 19043416; 33628209\nPhenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; MONDO:0009973; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness","entity_name":"AK2","entity_type":"gene"},{"created":"2025-10-27T16:54:53.806984+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.14","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ADA from panel Severe Combined Immunodeficiency (absent T absent B cells)","entity_name":null,"entity_type":null},{"created":"2025-10-27T16:54:53.585980+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADA was added\ngene: ADA was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADA were set to 3007108; 3475710; 8178821; 8227344; 2783588\nPhenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064","entity_name":"ADA","entity_type":"gene"},{"created":"2025-10-27T16:52:49.667223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3476","user_name":"Fahaz Nazer","item_type":"entity","text":"gene: ARHGAP19 was added\ngene: ARHGAP19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGAP19 were set to 41086021\nPhenotypes for gene: ARHGAP19 were set to Motor Peripheral Neuropathy; MONDO:0002316; ARHGAP19 related\nReview for gene: ARHGAP19 was set to GREEN\nAdded comment: Biallelic LOF variants in 25 individuals from 20 unrelated families\r\nPhenotype: motor predominant neuropathy\r\n14/23 had assymetric lower limb involvement\r\n\r\nBiochemical GAP assays show GAP domain variants cause loss of protein function. \r\nRNA studies show LOF alters expression of genes linked to 3 cellular pathways, compared to controls.\r\niPSC-derived motor neurons show reduced ARHGAP19 expression\r\n\r\nModels: Zebrafish, drosophila loss of function models show movement deficits.\r\n\r\nLOF variants reported in 'GAP' domain and outside this domain with no genotype-phenotype correlation noted \nSources: Literature","entity_name":"ARHGAP19","entity_type":"gene"},{"created":"2025-10-27T16:11:58.413511+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.256","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38890806, 37921875; Phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIA1","entity_type":"gene"},{"created":"2025-10-27T15:18:28.746892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3476","user_name":"Cara Beck","item_type":"entity","text":"gene: BRSK1 was added\ngene: BRSK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BRSK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRSK1 were set to 41035394\nPhenotypes for gene: BRSK1 were set to Epilepsy, MONDO:0005027, BRSK1-related\nReview for gene: BRSK1 was set to GREEN\nAdded comment: PMID:41035394 \r\nSix novel BRSK1 variants were identified in seven probands. Five cases were de novo, two inherited. One variant was recurrent. \r\nAll had epilepsy (generalised tonic clonic seizures, absence, focal, spasms), 2/7 GDD, 1/1 'mental developmental delay', 1/7 motor delay, 2/7 normal development. \r\nFunctional work, including in a mouse model, was consistent with loss of function mechanism and supports pathogenicity of 2 frameshift, 1 nonsense, 1 missense variant, with 2 missense not yet considered pathogenic. \nSources: Literature","entity_name":"BRSK1","entity_type":"gene"},{"created":"2025-10-27T14:03:17.743836+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.48","user_name":"Jasmine Chew","item_type":"entity","text":"edited their review of gene: ASIC5: Changed publications: 34395479","entity_name":"ASIC5","entity_type":"gene"},{"created":"2025-10-27T14:02:59.343070+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.48","user_name":"Jasmine Chew","item_type":"entity","text":"gene: ASIC5 was added\ngene: ASIC5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ASIC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASIC5 were set to PMID: 34395479\nPhenotypes for gene: ASIC5 were set to Unexplained recurrent pregnancy loss\nReview for gene: ASIC5 was set to AMBER\nAdded comment: PMID: 34395479 (2021)- WGS on a family (dead fetus and parents) from Saudi Arabia with an earlier history of three unexplained RPLs at 9th week of pregnancy revealed a novel homozygous c.680G>T, R227I missense variant inherited from parents with heterozygous variants. Another female subject was observed with an identical heterozygous variant, who is a single daughter, and her mother experienced the unexplained RPL similar with the earlier family in the ninth week of pregnancy consecutively three times. Functional analyses of the variant supported pathogenicity- reduced protein stability and prevent binding of amiloride, which is an activator to open the acid-sensing ion channel of ASIC5. \nSources: Literature","entity_name":"ASIC5","entity_type":"gene"},{"created":"2025-10-27T10:24:47.463406+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.238","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ATP6V1B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:24:10.782951+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.237","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ATP6V1B1 were set to 9916796; 12414817; 16611712; 18798332","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:23:35.371682+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.237","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ATP6V1B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:22:10.798914+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.236","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39837581; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:20:12.470815+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.22","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ATP6V1B1 as ready","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:20:12.463455+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.22","user_name":"Elena Savva","item_type":"entity","text":"Gene: atp6v1b1 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:20:08.088579+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.22","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ATP6V1B1 were set to 12414817; 9916796; 18798332; 16611712","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:19:58.677680+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.21","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ATP6V1B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:19:46.355907+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.20","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39837581; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:18:28.439347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3476","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ATP6V1B1 were set to 9916796; 12414817; 16611712; 18798332","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:18:11.356828+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3475","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ATP6V1B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T10:17:38.347119+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3474","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39837581; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM#267300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2025-10-27T07:35:48.829047+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390 to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:35:05.673707+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder (MONDO:0700092), KLHL20-related to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:34:32.378078+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390 to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:34:15.837004+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.390","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:33:34.628978+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder (MONDO:0700092), KLHL20-related to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:32:22.519605+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.255","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:31:24.043459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3474","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder (MONDO:0700092), KLHL20-related to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-27T07:30:55.956864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3473","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL20","entity_type":"gene"},{"created":"2025-10-26T17:19:34.720501+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCTD15 as ready","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:19:34.710147+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd15 has been classified as Amber List (Moderate Evidence).","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:19:20.550464+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene KCTD15 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-10-26T17:19:20.411082+11:00","panel_name":"Frontonasal dysplasia","panel_id":104,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCTD15 was added\ngene: KCTD15 was added to Frontonasal dysplasia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: KCTD15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCTD15 were set to 38296633\nPhenotypes for gene: KCTD15 were set to frontonasal dysplasia, MONDO:0016643\nMode of pathogenicity for gene: KCTD15 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:18:13.948334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCTD15 as ready","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:18:13.941397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd15 has been classified as Amber List (Moderate Evidence).","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:17:15.190775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCTD15 as Amber List (moderate evidence)","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:17:15.177788+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kctd15 has been classified as Amber List (Moderate Evidence).","entity_name":"KCTD15","entity_type":"gene"},{"created":"2025-10-26T17:15:50.748894+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX2 were set to 38553553; 39736497","entity_name":"SOX2","entity_type":"gene"},{"created":"2025-10-26T17:15:13.739299+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX2 were set to PMID: 38553553","entity_name":"SOX2","entity_type":"gene"},{"created":"2025-10-26T17:14:17.104159+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.398","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOX2 as Amber List (moderate evidence)","entity_name":"SOX2","entity_type":"gene"},{"created":"2025-10-26T17:14:17.094443+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox2 has been classified as Amber List (Moderate Evidence).","entity_name":"SOX2","entity_type":"gene"},{"created":"2025-10-26T17:12:30.111538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3472","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCRL were changed from Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000 to Oculocerebrorenal syndrome MONDO:0010645; Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000","entity_name":"OCRL","entity_type":"gene"},{"created":"2025-10-26T17:10:15.687592+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.462","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:10:00.308677+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.461","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:09:44.997400+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.390","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393 to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:09:03.499219+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:08:16.396217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.388","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:07:56.795122+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAPIN as ready","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:07:56.787936+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapin has been classified as Green List (High Evidence).","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:07:40.670662+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene SNAPIN from panel Callosome","entity_name":null,"entity_type":null},{"created":"2025-10-26T17:07:40.522972+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNAPIN was added\ngene: SNAPIN was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPIN were set to 40930097; 26539891\nPhenotypes for gene: SNAPIN were set to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:06:18.867462+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393 to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:05:39.845996+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:04:56.557543+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:04:43.376652+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.351","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393 to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:04:03.459584+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.350","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:03:16.306736+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.349","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:02:56.529296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3471","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAPIN were changed from Neurodevelopmental disorder (MONDO:0700092), SNAPIN-related to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-26T17:02:29.359874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3470","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAPIN","entity_type":"gene"},{"created":"2025-10-24T21:08:47.300903+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOCS3 were changed from Molybdenum cofactor deficiency, type B2, MIM# 621373 to Molybdenum cofactor deficiency, type B2, MIM# 621373","entity_name":"MOCS3","entity_type":"gene"},{"created":"2025-10-24T18:52:09.827573+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3470","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFNGR2 were set to 15924140; 18625743; 31222290","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2025-10-24T18:51:52.211577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3469","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported with bi-allelic disease.","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2025-10-24T18:51:06.213895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3469","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFNGR2: Added comment: PMID 23161749: single case report of heterozygous LoF variant causing disease (but ?missed second hit).; Changed publications: 15924140, 18625743, 31222290, 23161749","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2025-10-24T18:10:05.153844+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOXL3 as ready","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:10:05.147110+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Green List (High Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:09:51.463598+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene LOXL3 from panel Pierre Robin Sequence","entity_name":null,"entity_type":null},{"created":"2025-10-24T18:09:51.393274+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LOXL3 was added\ngene: LOXL3 was added to Clefting disorders. Sources: Expert Review Green,Literature,Literature\nMode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502; 41052910\nPhenotypes for gene: LOXL3 were set to Stickler syndrome, MONDO:0019354, LOXL3-related","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:09:38.395075+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOXL3 as ready","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:09:38.387403+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Green List (High Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:09:19.356807+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene LOXL3 from panel Fetal anomalies","entity_name":null,"entity_type":null},{"created":"2025-10-24T18:09:19.182933+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LOXL3 was added\ngene: LOXL3 was added to Pierre Robin Sequence. Sources: Expert Review Green,Literature\nMode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502; 41052910\nPhenotypes for gene: LOXL3 were set to Stickler syndrome, MONDO:0019354, LOXL3-related","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:08:14.663042+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.461","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LOXL3 were changed from Stickler syndrome; cleft lip/palate to Stickler syndrome, MONDO:0019354, LOXL3-related","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:08:01.509950+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.460","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:07:36.200086+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.459","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LOXL3 as Green List (high evidence)","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:07:36.193008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Green List (High Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:07:16.403827+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.458","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LOXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 41052910; Phenotypes: Stickler syndrome, MONDO:0019354, LOXL3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:06:39.356101+11:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354, LOXL3-related","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:06:27.015147+11:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LOXL3 as Green List (high evidence)","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:06:27.003186+11:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Green List (High Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:06:18.148551+11:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LOXL3: Added comment: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease. Zebrafish model also available.; Changed rating: GREEN; Changed publications: 30362103, 25663169, 41052910; Changed phenotypes: Stickler syndrome, MONDO:0019354, LOXL3-related","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:05:26.675927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354, LOXL3-related","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:04:55.460703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LOXL3 were set to 30362103; 25663169","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:04:38.256289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3467","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LOXL3 as Green List (high evidence)","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:04:38.249188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxl3 has been classified as Green List (High Evidence).","entity_name":"LOXL3","entity_type":"gene"},{"created":"2025-10-24T18:04:24.266903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3466","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease.; to: PMID 41052910: additional family reported, three affected sibs, compound het variants segregated with disease. Zebrafish model also available.","entity_name":"LOXL3","entity_type":"gene"}]}