{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=21","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=19","results":[{"created":"2026-03-13T17:30:42.085154+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4529","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C17orf80 as ready","entity_name":"C17orf80","entity_type":"gene"},{"created":"2026-03-13T17:30:42.078509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4529","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf80 has been classified as Amber List (Moderate Evidence).","entity_name":"C17orf80","entity_type":"gene"},{"created":"2026-03-13T17:30:34.301574+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4529","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C17orf80 as Amber List (moderate evidence)","entity_name":"C17orf80","entity_type":"gene"},{"created":"2026-03-13T17:30:34.292142+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4529","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf80 has been classified as Amber List (Moderate Evidence).","entity_name":"C17orf80","entity_type":"gene"},{"created":"2026-03-13T17:30:17.793880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4528","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C17orf80 was added\ngene: C17orf80 was added to Mendeliome. Sources: Literature\nnew gene name tags were added to gene: C17orf80.\nMode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf80 were set to 41720819\nPhenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970\nReview for gene: C17orf80 was set to AMBER\nAdded comment: PMID 41720819 reports 3 individuals from 2 unrelated families with biallelic MTNAP1 variants (hmz missense and hmz LoF) presenting with early‑onset global developmental delay, ataxia, spasticity, seizures and progressive cerebral and cerebellar atrophy. Functional studies in proband-derived fibroblasts and MTNAP1-silenced neuronal cells implicated profound mitochondrial fragmentation, reduced oxidative phosphorylation capacity, increased reactive oxygen species accumulation, and premature senescence-like stress responses. Structural modeling and biophysical analyses revealed that the p.G553R variant destabilizes the MTNAP1 fold, disrupts its DNA- and membrane-binding interfaces, and induces aberrant aggregation, leading to loss of mitochondrial integrity. \nSources: Literature","entity_name":"C17orf80","entity_type":"gene"},{"created":"2026-03-13T17:26:01.237078+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC113 as ready","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:26:01.209322+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc113 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:25:50.016232+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CCDC113 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-13T17:25:49.933735+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC113 was added\ngene: CCDC113 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: CCDC113 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC113 were set to 41645397; 41645397\nPhenotypes for gene: CCDC113 were set to Infertility disorder, MONDO:0005047, CCDC113-related","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:25:39.186715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4527","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC113 as ready","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:25:39.179759+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4527","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc113 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:24:43.862941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4527","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC113 as Amber List (moderate evidence)","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:24:43.855431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4527","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc113 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:24:26.015304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4526","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCDC113 was added\ngene: CCDC113 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC113 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC113 were set to 41645397; 41645397\nPhenotypes for gene: CCDC113 were set to Infertility disorder, MONDO:0005047, CCDC113-related\nReview for gene: CCDC113 was set to AMBER\nAdded comment: PMID 41645397 reports three affected men from two unrelated families who carry biallelic missense variants in CFAP263 (CCDC113) and present with severe oligoasthenoteratozoospermia. The variants cosegregate as recessive, are absent from population databases, and functional studies (reduced protein stability and a Ccdc113 knockout mouse model) recapitulate the infertility phenotype. \nSources: Literature","entity_name":"CCDC113","entity_type":"gene"},{"created":"2026-03-13T17:22:58.867756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4525","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASCL5 as ready","entity_name":"ASCL5","entity_type":"gene"},{"created":"2026-03-13T17:22:58.857812+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4525","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ascl5 has been classified as Amber List (Moderate Evidence).","entity_name":"ASCL5","entity_type":"gene"},{"created":"2026-03-13T17:22:51.364842+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4525","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASCL5 as Amber List (moderate evidence)","entity_name":"ASCL5","entity_type":"gene"},{"created":"2026-03-13T17:22:51.357011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4525","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ascl5 has been classified as Amber List (Moderate Evidence).","entity_name":"ASCL5","entity_type":"gene"},{"created":"2026-03-13T17:22:36.310240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4524","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASCL5 was added\ngene: ASCL5 was added to Mendeliome. Sources: Literature\nfounder tags were added to gene: ASCL5.\nMode of inheritance for gene: ASCL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASCL5 were set to 41673016\nPhenotypes for gene: ASCL5 were set to Tooth disorder, MONDO:0006999, ASCL5-related\nReview for gene: ASCL5 was set to AMBER\nAdded comment: [PMID 41673016] reports 17 individuals from 6 unrelated families with heterozygous missense ASCL5 c.274G>A (p.Glu92Lys) variants presenting with autosomal‑dominant lobodontia, characterized by supernumerary cusps, single pyramidal roots, and taurodontism. The variant fully co‑segregates with disease, is absent from population databases, and functional studies (CRISPR knock‑in mouse, luciferase reporter, RNA‑seq) demonstrate loss‑of‑function of ASCL5 transcriptional activation.\r\n\r\nAmber rating due to this being a likely founder variant and not necessarily perceived as disease. \nSources: Literature","entity_name":"ASCL5","entity_type":"gene"},{"created":"2026-03-13T17:20:08.317201+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASB9 as ready","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:20:08.309685+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asb9 has been classified as Green List (High Evidence).","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:59.099928+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene ASB9 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-13T17:19:58.816447+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.121","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASB9 was added\ngene: ASB9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ASB9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ASB9 were set to 41730923\nPhenotypes for gene: ASB9 were set to Infertility disorder, MONDO:0005047, ASB9-related","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:43.146112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4523","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASB9: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:35.644628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASB9 as ready","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:35.637500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asb9 has been classified as Green List (High Evidence).","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:28.244092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4523","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASB9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:11.151372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4522","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASB9 as Green List (high evidence)","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:19:11.141378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4522","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asb9 has been classified as Green List (High Evidence).","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:18:57.933073+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4521","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASB9 was added\ngene: ASB9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ASB9 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: ASB9 were set to 41730923\nPhenotypes for gene: ASB9 were set to Infertility disorder, MONDO:0005047, ASB9-related\nReview for gene: ASB9 was set to GREEN\nAdded comment: PMID 41730923 reports four unrelated male patients with hemizygous missense ASB9 variants presenting with idiopathic oligoasthenoteratozoospermia. Functional studies reveal reduced ASB9 protein stability, impaired interaction with TUBB4A, and mouse knockout/knock‑in models recapitulate the infertility phenotype, supporting a loss‑of‑function disease mechanism. \nSources: Literature","entity_name":"ASB9","entity_type":"gene"},{"created":"2026-03-13T17:01:49.734959+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.696","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: PMID: 41459630 proband with oligodontia and malocclusion, dysmorphic hands and feet, microcephaly, ASD but otherwise normal development, homozygous for Cys72*. following the genetic findings the proband had an ophthalmological examination which showed a mild retinopathy consisting of yellow deposits and hyperpigmentation within the RPE, but the patient was visually asymptomatic at age 7. However in the original family PMID: 24916380 progressive visual acuity decrease did not occur until ages 10 or 8 in the 3 affected siblings. This family also had widely spaced oligodontia and malocclusion.; to: PMID: 41459630 proband with oligodontia and malocclusion, dysmorphic hands and feet, microcephaly, ASD but otherwise normal development, homozygous for Cys72*. following the genetic findings the proband had an ophthalmological examination which showed a mild retinopathy consisting of yellow deposits and hyperpigmentation within the RPE, but the patient was visually asymptomatic at age 7. However in the original family PMID: 24916380 progressive visual acuity decrease did not occur until ages 10 or 8 in the 3 affected siblings. This family also had widely spaced oligodontia and malocclusion.\r\n\r\nID also reported in PMID: 24916380 and PMID 34988992 families","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T17:01:16.247496+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.248","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: RDH11 as Green List (high evidence)","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T17:01:16.238186+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.248","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: rdh11 has been classified as Green List (High Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T17:00:43.000132+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.696","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: RDH11 as Green List (high evidence)","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T17:00:42.993284+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.696","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: rdh11 has been classified as Green List (High Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T17:00:04.867021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4520","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T16:57:56.157154+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.247","user_name":"Lucy Spencer","item_type":"panel","text":"Added reviews for gene RDH11 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-13T16:57:51.822963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.695","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene RDH11 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-13T16:57:51.454983+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.695","user_name":"Lucy Spencer","item_type":"entity","text":"gene: RDH11 was added\ngene: RDH11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: RDH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732\nPhenotypes for gene: RDH11 were set to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T16:57:29.982218+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4519","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: RDH11 as Green List (high evidence)","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T16:57:29.974644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4519","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: rdh11 has been classified as Green List (High Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T16:56:16.515878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4518","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RDH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 41459630; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RDH11","entity_type":"gene"},{"created":"2026-03-13T16:39:38.616091+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.148","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: RAB1A as Green List (high evidence)","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:39:38.606533+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.148","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: rab1a has been classified as Green List (High Evidence).","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:32:38.268669+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4518","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: RAB1A were set to 37924809","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:32:16.012186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4517","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: RAB1A as Green List (high evidence)","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:32:16.001908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4517","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: rab1a has been classified as Green List (High Evidence).","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:30:07.216773+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.694","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: RAB1A were set to PMID: 37924809","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:29:40.796060+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.693","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: RAB1A as Green List (high evidence)","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:29:40.786235+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.693","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: rab1a has been classified as Green List (High Evidence).","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:20:39.162767+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.692","user_name":"Lucy Spencer","item_type":"panel","text":"Added reviews for gene RAB1A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-13T16:19:56.627231+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.147","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene RAB1A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-13T16:19:56.431964+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.147","user_name":"Lucy Spencer","item_type":"entity","text":"gene: RAB1A was added\ngene: RAB1A was added to Hereditary Spastic Paraplegia. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB1A were set to 37924809\nPhenotypes for gene: RAB1A were set to neurodevelopmental disorder MONDO:0700092, RAB1A-related","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:19:07.577016+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4516","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: PMID: 37924809 2 families with PTCs inherited from affected fathers (Arg175* and Thr43fs), another proband with a PTC and unknown inheritance (Val22fs) and a 4th proband with a de novo missense (Leu28Pro). All variants were absent from gnomad except Val22fs which has a PTC within the first 102 nucleotides so is likely to escape NMD. Arg175* was in the last exon and also escapes NMD and removes two C-terminal prenylated cysteine residues that direct the subcellular localization and activity of Rab proteins. Studies in transfected cells showed a construct truncated protein failed to localise to the golgi. In KO cells both Arg175* and Leu28pro failed to rescue the phenotype.\r\n\r\nPMID: 38091987: two new probands with NDD and spasticity. One de novo for Ser200*, 2nd patient de novo for Arg175* same variant previously identified in a family from the previous paper. This new paper also says they have an aditional 3rd family with 2 affected siblings and an affected mother who also have Arg175*.; to: PMID: 37924809 2 families with PTCs inherited from affected fathers (Arg175* and Thr43fs), another proband with a PTC and unknown inheritance (Val22fs) and a 4th proband with a de novo missense (Leu28Pro). All variants were absent from gnomad except Val22fs which has a PTC within the first 102 nucleotides so is likely to escape NMD. Arg175* was in the last exon and also escapes NMD and removes two C-terminal prenylated cysteine residues that direct the subcellular localization and activity of Rab proteins. Studies in transfected cells showed a construct truncated protein failed to localise to the golgi. In KO cells both Arg175* and Leu28pro failed to rescue the phenotype.\r\n\r\nThe individual with the missense variant had a more severe phenotype involving abnormal MRI findings and spondyloepimetaphyseal dysplasia, the functional studies suggested this variant has a dominant negative effect which would explain this.\r\n\r\nPMID: 38091987: two new probands with NDD and spasticity. One de novo for Ser200*, 2nd patient de novo for Arg175* same variant previously identified in a family from the previous paper. This new paper also says they have an aditional 3rd family with 2 affected siblings and an affected mother who also have Arg175*.","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T16:16:53.757940+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4516","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: RAB1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37924809, 38091987; Phenotypes: neurodevelopmental disorder MONDO:0700092, RAB1A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB1A","entity_type":"gene"},{"created":"2026-03-13T14:25:02.511685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4516","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: TKFC: Rating: AMBER; Mode of pathogenicity: None; Publications: 38697782, 32004446; Phenotypes: Triokinase and FMN cyclase deficiency syndrome, MONDO:0032927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TKFC","entity_type":"gene"},{"created":"2026-03-13T07:29:03.620707+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: There are arguments both for and against including this gene in gNBS -- decision may depend on level of integration between clinical-laboratory pathways and turnaround time.; to: Reviewed at Gene List subcommittee meeting 13/3/26.\r\n\r\nThere are arguments both for and against including this gene in gNBS -- decision may depend on level of integration between clinical-laboratory pathways and turnaround time.","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:28:18.695247+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ11 as ready","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:28:18.688229+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj11 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:28:16.217102+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ11 were changed from Familial Hyperinsulinemic hypoglycemia 2 (CHI); MODY type 13; neonatale diabetes; DEND Syndrome to Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:28:04.186843+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNJ11 as Amber List (moderate evidence)","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:28:04.176869+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj11 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:27:51.540728+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-13T07:17:58.839317+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHA as ready","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-13T07:17:58.830681+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdha has been classified as Green List (High Evidence).","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-13T07:17:56.104089+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCKDHA were changed from  to Maple syrup urine disease, type Ia, MIM# 248600","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-13T07:17:47.756029+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCKDHA as Green List (high evidence)","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-13T07:17:47.744617+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdha has been classified as Green List (High Evidence).","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-13T07:17:38.618321+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-13T07:17:02.780721+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHB as ready","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-13T07:17:02.770628+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-13T07:17:00.723744+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCKDHB were changed from  to Maple syrup urine disease, type Ib, MIM# 248600","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-13T07:16:51.758814+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCKDHB as Green List (high evidence)","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-13T07:16:51.742277+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-13T07:16:42.741584+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-12T21:58:46.293800+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.29","user_name":"Val Jacquemin","item_type":"entity","text":"gene: KCNJ11 was added\ngene: KCNJ11 was added to Genomic newborn screening: ICoNS. Sources: Other\nMode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KCNJ11 were set to PMID: 28824061; PMID: 32027066; PMID: 21674179; PMID: 38226203; PMID: 26908106\nPhenotypes for gene: KCNJ11 were set to Familial Hyperinsulinemic hypoglycemia 2 (CHI); MODY type 13; neonatale diabetes; DEND Syndrome\nReview for gene: KCNJ11 was set to RED\nAdded comment: 1) Mutations in the KCNJ11 gene affect the ATP-sensitive potassium (KATP) channel in pancreatic β-cells, which links cellular metabolism to insulin secretion. When gain-of-function mutations occur, the KATP channel remains excessively open, preventing β-cell depolarization and impairing insulin release; this mechanism causes monogenic diabetes that can present either as Neonatal diabetes or as MODY13 depending largely on mutation severity and age of onset. Heterozygous activating mutations in KCNJ11 were first shown to cause neonatal diabetes, demonstrating that increased KATP channel activity suppresses insulin secretion and leads to hyperglycemia (Shimomura & Maejima 2017). The most severe activating mutations can also affect neuronal KATP channels, leading to the syndromic form known as DEND syndrome, characterized by developmental delay, epilepsy, and neonatal diabetes. Because milder activating variants may allow partial insulin secretion, diabetes can appear later in life and be classified as MODY13, placing both conditions on a clinical spectrum of KATP channel overactivity (De Franco et al. 2020).  As activating mutations in KCNJ11 can lead either to neonatal diabetes or to MODY13, genotype alone does not reliably predict the age of disease onset. MODY13 typically manifests much later in life; reported cases show onset ranging from approximately 9 to 28 years of age, with many patients developing diabetes during adolescence (Chen et al. 2023). Because gNBS programs generally target disorders that produce symptoms in early childhood (e.g., before about 5 years of age) and require early intervention, MODY13 falls outside the scope of these screening criteria. Consequently, detecting a KCNJ11 activating mutation in a newborn would not allow clinicians to determine whether the child will develop neonatal diabetes in infancy or a later-onset MODY13 phenotype. For this reason, neonatal diabetes cannot reliably be included as a standalone condition in gNBS based solely on KCNJ11 variants.\r\n\r\nIn contrast, the opposite mechanism, loss-of-function mutations in KATP channel genes such as KCNJ11, causes Congenital hyperinsulinism (familial hyperinsulinemic hypoglycemia), where defective channels cannot open, leading to persistent β-cell depolarization and inappropriate insulin secretion even during hypoglycemia. Most severe KATP-related CHI cases follow an autosomal recessive inheritance pattern, although some mutations can act dominantly and produce milder phenotypes (Kapoor et al. 2011). When focusing specifically on autosomal recessive KCNJ11-related CHI, biallelic inactivating mutations disrupt KATP channel activity and typically result in severe neonatal hypoglycemia. From a screening perspective, CHI typically presents with symptomatic hypoglycemia very shortly after birth, meaning it is usually detected rapidly through clinical glucose monitoring, thereby limiting the added value of gNBS (Stanley, 2016). \r\n\r\nIn their comparative analysis of genomic newborn sequencing initiatives, Thomas Minten and colleagues reported that the KCNJ11 gene is included in 17 of the 27 gNBS programs evaluated in the study. These programs include BabySeq, BabyDetect, BeginNGS, Early Check, the GUARDIAN study, NESTS (Newborn Sequencing in Genomic Medicine and Public Health), gnSTAR, the Chen et al. newborn sequencing cohort, the Wang et al. newborn sequencing study, the Yang et al. multicenter sequencing study, the PerkinElmer genomic newborn screening panel, the PerkinElmer GS program, the NeoExome panel, BabyScreen+, NeoSeq, the targeted panel described by Huang et al. (inborn disorders of neonates), and the sequencing pilot described by Jian et al. (WGS screening pilot). However, the analysis compares gene inclusion rather than specific target conditions, and it is therefore not always clear which disease associated with KCNJ11 (e.g., monogenic diabetes or congenital hyperinsulinism) is intended to be screened for in each program.\r\n\r\n2) ClinGen curation\r\nThe KCNJ11 gene has been curated by Clinical Genome Resource (ClinGen) for its role in monogenic diabetes. ClinGen has classified the association between KCNJ11 and KATP-channel–related diabetes as Definitive, based on strong genetic and experimental evidence. Pathogenic variants in KCNJ11 are well established causes of Neonatal diabetes and MODY13 through gain-of-function effects on the KATP channel. The gene is also associated with Congenital hyperinsulinism through loss-of-function variants. ClinGen curation therefore supports a strong gene–disease relationship for both monogenic diabetes and hyperinsulinism.\r\n\r\n3) Treatability and evidence\r\nClinical studies have demonstrated that a large proportion of individuals with KCNJ11-related neonatal diabetes can successfully switch from insulin injections to sulfonylureas, leading to improved glycemic control and quality of life (Pearson et al., 2006, New England Journal of Medicine). In addition to improving metabolic control, early treatment may also improve neurological outcomes in some patients with syndromic forms of the disease such as DEND syndrome.\r\nFor CHI (caused by loss-of-function KATP mutations), treatment may include diazoxide therapy, which acts as a KATP channel opener, although many recessive KATP-channel cases are diazoxide-unresponsive and may require pancreatectomy. Early diagnosis is therefore clinically important to prevent severe hypoglycemia and neurological damage.\r\n\r\n4) Impact of treatment\r\nThe clinical impact of appropriate treatment can be substantial:\r\nKCNJ11 neonatal diabetes --> switch from insulin to oral sulfonylureas, improved glycemic control, reduced treatment burden, potential improvement in neurological symptoms when therapy is initiated early\r\nCongenital hyperinsulinism --> diazoxide or octreotide therapy may prevent hypoglycemia,\r\nearly recognition prevents hypoglycemic brain injury\r\n\r\n5) Issues with genomic screening\r\nDespite the strong gene–disease association and available treatments, several challenges exist for genomic newborn screening of KCNJ11.\r\nPhenotypic ambiguity --> same mutation type in KCNJ11 can cause neonatal diabetes or MODY13 which have different ages of onset\r\n\r\nTechnical sequencing considerations --> from a sequencing perspective, KCNJ11 is technically straightforward to analyze: small gene, no pseudogenes, good coverage in both exome and genome sequencing\r\n\r\nClinical detection without genomics --> for autosomal recessive KCNJ11-related congenital hyperinsulinism, symptoms usually appear shortly after birth with severe hypoglycemia. Because neonatal glucose levels are routinely monitored, many cases are detected rapidly through standard clinical care, limiting the additional value of genomic newborn screening. Neonatal diabetes presents with persistent hyperglycemia in infancy, often leading to rapid clinical investigation. \nSources: Other","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2026-03-12T21:40:03.051945+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.29","user_name":"José Manuel González de Aledo Castillo","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Genomic newborn screening: ICoNS. Sources: Expert Review,Literature\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nAdded comment: Gene disease association evidence:\r\n\r\nDisease: Maple syrup urine disease type 1A (MSUD1B), autosomal recessive.\r\nGene: BCKDHB encodes the E1β subunit of the branched-chain α-ketoacid dehydrogenase complex. Loss of function at the protein level reduces BCKD activity and causes toxic accumulation of branched-chain amino acids and ketoacids. BCKDHB variants account for ~35% of MSUD cases\r\n\r\nCuration by ClinGen:\r\nClinGen gene–disease validity: Definitive\r\n\r\nTreatability and evidence behind that including impact of treatment:\r\nStandard care is dietary leucine restriction, BCAA-free supplements, supplementation with isoleucine and valine as needed, and frequent biochemical monitoring. Acute metabolic crises need urgent metabolic management.\r\nEarly treatment of asymptomatic infants detected by NBS means that most who would have developed neonatal manifestations remain asymptomatic with good treatment adherence . NBS cases has better survival than clinically diagnosed cases: 62.5% versus 5.2%\r\nFor severe MSUD, liver transplantation can be an option\r\n\r\nIssues with genomic screening\r\nMain problem would be turnaround time\r\n\r\nAny variants of interest\r\nThe pathogenic spectrum is dominated by missense variants, also there also reported truncating variants.\r\nc.548G>C (p.Arg183Pro): well-known Ashkenazi Jewish founder variant.\r\n\r\nWho has excluded in genomic newborn screening it and why:\r\nBeginNGS in previous genelists, now included\r\n\r\nTraditional newborn screening in any jurisdiction:\r\nIncluded in RUSP and most NBS wordlwide \nSources: Expert Review, Literature","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2026-03-12T21:16:38.498355+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.29","user_name":"José Manuel González de Aledo Castillo","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to Genomic newborn screening: ICoNS. Sources: Literature\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nAdded comment: Gene–disease association evidence:\r\nDisease: Maple syrup urine disease type 1A (MSUD1A), autosomal recessive.\r\nGene: BCKDHA encodes the E1α subunit of the branched-chain α-ketoacid dehydrogenase complex. Loss of function at the protein level reduces BCKD activity and causes toxic accumulation of branched-chain amino acids and ketoacids. BCKDHA variants account for ~45% of MSUD cases\r\n\r\nCuration by ClinGen:\r\nClinGen gene–disease validity: Definitive\r\n\r\nTreatability and evidence behind that including impact of treatment:\r\nStandard care is dietary leucine restriction, BCAA-free supplements, supplementation with isoleucine and valine as needed, and frequent biochemical monitoring. Acute metabolic crises need urgent metabolic management.\r\nEarly treatment of asymptomatic infants detected by NBS means that most who would have developed neonatal manifestations remain asymptomatic with good treatment adherence . NBS cases has better survival than clinically diagnosed cases: 62.5% versus 5.2%\r\nFor severe MSUD, liver transplantation can be an option\r\n\r\nIssues with genomic screening\r\nMain problem would be turnaround time\r\n\r\nAny variants of interest\r\nThe pathogenic spectrum is dominated by missense variants, also there also reported truncating variants. \r\nc.1312T>A, p.Tyr438Asn (Old Order/Swiss Mennonites). High prevalence in these populations\r\n\r\nWho has excluded in genomic newborn screening it and why:\r\nBeginNGS in previous genelists, now included\r\n\r\nTraditional newborn screening in any jurisdiction:\r\nIncluded in RUSP and most NBS wordlwide \nSources: Literature","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2026-03-12T18:52:59.685980+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4516","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANLN were set to 24676636; 30002222; 34819827; 38322629; 37957688","entity_name":"ANLN","entity_type":"gene"},{"created":"2026-03-12T18:52:33.570554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4515","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANLN: Added comment: PMID 41492027: two individuals from a single family with missense variant and FSGS phenotype. Insufficient segregation. Retain Amber rating as many of the previously reported variants have high pop frequencies.; Changed publications: 24676636, 30002222, 34819827, 38322629, 37957688, 41492027","entity_name":"ANLN","entity_type":"gene"},{"created":"2026-03-12T18:52:02.239702+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANLN were set to 24676636; 30002222; 34819827; 38322629; 37957688","entity_name":"ANLN","entity_type":"gene"},{"created":"2026-03-12T18:51:07.429452+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ANLN: Added comment: PMID 41492027: two individuals from a single family with missense variant and FSGS phenotype. Insufficient segregation. Retain Amber rating as many of the previously reported variants have high pop frequencies.; Changed publications: 24676636, 30002222, 41492027","entity_name":"ANLN","entity_type":"gene"},{"created":"2026-03-12T18:43:38.290167+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4515","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AHR were set to 29726989; 31896775","entity_name":"AHR","entity_type":"gene"},{"created":"2026-03-12T18:43:17.715384+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4514","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AHR: Added comment: PMID 38922562 reports third family with foveal hypoplasia, homozygous variant. Retain Amber rating.; Changed publications: 31009037, 33193710, 38922562","entity_name":"AHR","entity_type":"gene"},{"created":"2026-03-12T17:42:55.255994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4514","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JKAMP as ready","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:42:55.244787+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4514","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jkamp has been classified as Green List (High Evidence).","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:42:42.236549+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JKAMP as ready","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:42:42.226473+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jkamp has been classified as Green List (High Evidence).","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:42:38.029804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4514","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-03-12T17:42:37.409332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4514","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JKAMP was added\ngene: JKAMP was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JKAMP were set to 41643666\nPhenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM#\t621533","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:42:33.626862+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JKAMP as ready","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:42:33.619856+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jkamp has been classified as Green List (High Evidence).","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:41:27.802473+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-03-12T17:41:27.621338+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JKAMP was added\ngene: JKAMP was added to Microcephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JKAMP were set to 41643666\nPhenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM#\t621533","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:40:48.751703+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.383","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-03-12T17:40:48.388671+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.383","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JKAMP was added\ngene: JKAMP was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JKAMP were set to 41643666\nPhenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM#\t621533","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:33:33.765196+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JKAMP as ready","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:33:33.757725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jkamp has been classified as Green List (High Evidence).","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:33:26.555618+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JKAMP as Green List (high evidence)","entity_name":"JKAMP","entity_type":"gene"},{"created":"2026-03-12T17:33:26.547890+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jkamp has been classified as Green List (High Evidence).","entity_name":"JKAMP","entity_type":"gene"}]}