{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=41","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=39","results":[{"created":"2026-02-06T20:41:17.159443+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ARAP3 from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:41:17.091219+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARAP3 was added\ngene: ARAP3 was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARAP3 were set to 32908855\nPhenotypes for gene: ARAP3 were set to Lymphoedema, MONDO:0019297, ARAP3-related","entity_name":"ARAP3","entity_type":"gene"},{"created":"2026-02-06T20:40:41.283511+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ARAF from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:40:41.235119+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARAF was added\ngene: ARAF was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ARAF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARAF were set to 31263281\nPhenotypes for gene: ARAF were set to Lymphatic malformation, MONDO:0019313, ARAF-related\nMode of pathogenicity for gene: ARAF was set to Other","entity_name":"ARAF","entity_type":"gene"},{"created":"2026-02-06T20:39:31.063933+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ANGPT2 from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:39:30.993865+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANGPT2 was added\ngene: ANGPT2 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ANGPT2 were set to 32908006; 34876502\nPhenotypes for gene: ANGPT2 were set to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops","entity_name":"ANGPT2","entity_type":"gene"},{"created":"2026-02-06T19:31:36.428062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4260","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: VPS18 as ready","entity_name":"VPS18","entity_type":"gene"},{"created":"2026-02-06T19:31:36.419863+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4260","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vps18 has been classified as Red List (Low Evidence).","entity_name":"VPS18","entity_type":"gene"},{"created":"2026-02-06T19:23:39.439546+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4260","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VPS18 was added\ngene: VPS18 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: VPS18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: VPS18 were set to 41526335\nPhenotypes for gene: VPS18 were set to Inborn error of immunity, MONDO:0003778\nReview for gene: VPS18 was set to RED\nAdded comment: PMID 41526335 reports a single individual from one unrelated family with a heterozygous loss‑of‑function stop‑gain VPS18 variant (c.700C>T, p.Arg234Ter) presenting with congenital neutropenia, maturation arrest of neutrophils and recurrent infections. Human iPSC knock‑in, zebrafish and mouse models recapitulate the neutrophil deficiency, supporting a haploinsufficiency mechanism with dominant inheritance and incomplete penetrance. \nSources: Literature","entity_name":"VPS18","entity_type":"gene"},{"created":"2026-02-06T17:05:38.885451+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNND2 as Green List (high evidence)","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T17:05:38.877423+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnd2 has been classified as Green List (High Evidence).","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T17:05:11.597568+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.\r\n\r\nNote several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T17:04:22.679348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4259","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNND2 as Green List (high evidence)","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T17:04:22.668275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnd2 has been classified as Green List (High Evidence).","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T17:04:05.070442+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4258","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.\r\n\r\nNote several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T17:03:17.150004+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.658","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTNND2 were set to 25839933; 29127138; 25807484; 38604781; 25473103; 31814264","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T16:55:43.752883+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.657","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNND2 as Green List (high evidence)","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T16:55:43.732965+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.657","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnd2 has been classified as Green List (High Evidence).","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T16:54:59.629090+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.656","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTNND2: Added comment: PMID 41502569 (preprint) reports phenotypic and molecular information for 57 individuals, 42 previously unpublished, with heterozygous CTNND2 variants. The 41 CTNND2 variants included 12 previously reported loss-of-function- and one missense variant, and 28 novel variants comprising 10 missense and 18 predicted loss-of-function changes. Eight of the novel variants occurred de novo, and 12 were inherited from a parent with a neurodevelopmental phenotype. The most common clinical features were developmental delay (90%), intellectual disability (74%), and behavioral abnormalities (79%). Functional studies revealed impaired early neurogenesis in one patient-derived line, characterized by aberrant neural rosette formation. Transcriptome analysis showed dysregulated WNT signaling, and partial rescue of these defects was achieved by modulating the WNT pathway, highlighting δ-catenin's role in early neural development.\r\n\r\nNote several of the reported missense variants in this gene have high gnomAD counts so these should be interpreted with caution. Nevertheless, large number of individuals reported now with LoF variants and NDD phenotype.; Changed rating: GREEN; Changed publications: 25839933, 29127138, 25807484, 41502569; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CTNND2-related","entity_name":"CTNND2","entity_type":"gene"},{"created":"2026-02-06T16:54:10.971155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4258","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898; CAKUT to Multiple synostoses syndrome 4 MIM#617898; Klippel-Feil syndrome 1, autosomal dominant MIM#118100; Leber congenital amaurosis 17 MIM615360; Microphthalmia, isolated 4 MIM#613094","entity_name":"GDF6","entity_type":"gene"},{"created":"2026-02-06T16:53:49.023094+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4257","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: GDF6 were set to 18425797; 19129173; 32737436","entity_name":"GDF6","entity_type":"gene"},{"created":"2026-02-06T16:53:06.396442+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4256","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26643732, 29130651, 30733656, 18425797, 34573339, 23307924, 19129173, 20494911, 21070663, 24033328, 25457163; Phenotypes: Multiple synostoses syndrome 4 MIM#617898, Klippel-Feil syndrome 1, autosomal dominant MIM#118100, Leber congenital amaurosis 17 MIM615360, Microphthalmia, isolated 4 MIM#613094; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GDF6","entity_type":"gene"},{"created":"2026-02-06T14:14:10.463104+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.311","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-46303-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-02-06T14:14:10.395501+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.311","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46303-Loss was added\nRegion: ISCA-46303-Loss was added to Clefting disorders. Sources: ClinGen\nMode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-06T14:14:01.188593+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.156","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46303-Loss was added\nRegion: ISCA-46303-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen\nMode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336\nReview for Region: ISCA-46303-Loss was set to GREEN\nAdded comment: Deletion of the upstream enhancer of SOX9 has been shown to be associated with Pierre Robin syndrome in a number of affected individuals and this region has been curated by Clingen to be HI3. Coordinates were based on the largest region found in affected individuals. \r\n\r\nIt should be noted deletions of upstream enhancer elements of SOX9 of different sizes have also been associated with male to female sex reversal. Exact coordinates and critical regions are still being defined in the literature. \nSources: ClinGen","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-06T14:10:03.742520+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGBD5 as ready","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:10:03.735248+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgbd5 has been classified as Green List (High Evidence).","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:09:51.550689+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGBD5 as ready","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:09:51.543781+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgbd5 has been classified as Green List (High Evidence).","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:09:33.655553+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4256","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGBD5 as ready","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:09:33.637044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgbd5 has been classified as Green List (High Evidence).","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:09:15.836886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4256","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T14:09:15.292735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4256","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGBD5 was added\ngene: PGBD5 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGBD5 were set to 41533792\nPhenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:09:03.960188+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T14:09:03.823073+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGBD5 was added\ngene: PGBD5 was added to Hereditary Spastic Paraplegia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGBD5 were set to 41533792\nPhenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:08:48.981459+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T14:08:48.707206+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.369","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGBD5 was added\ngene: PGBD5 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGBD5 were set to 41533792\nPhenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:07:08.021660+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.656","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGBD5 as ready","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:07:08.014400+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.656","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgbd5 has been classified as Green List (High Evidence).","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:06:50.983585+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.656","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGBD5 as Green List (high evidence)","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:06:50.977110+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.656","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgbd5 has been classified as Green List (High Evidence).","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T14:06:19.885124+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.655","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGBD5 was added\ngene: PGBD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGBD5 were set to 41533792\nPhenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482\nReview for gene: PGBD5 was set to GREEN\nAdded comment: 10 individuals reported from 5 consanguineous families with bi-allelic variants in this gene and global developmental delay with impaired intellectual development, delayed motor skills, and motor abnormalities. Affected individuals were unable to speak or walk due to peripheral spasticity, ataxia, or hypotonia, and developed early-onset seizures. Additional features included dysmorphic facies, short stature, and brain imaging abnormalities, such as thin corpus callosum and cerebellar atrophy.\r\n\r\nPgbd5-null mice were runted and had significantly smaller brains compared to wildtype. Mutant mice showed increased locomotor activity, reduced anxiety-like behavior, impaired motor coordination, increased susceptibility to seizures, and decreased cortical volume on brain MRI. Analysis of neurons derived from Pgbd5-null mouse brains showed reduced DNA breakage and repair in postmitotic neuronal precursors during cortical development compared to controls. \nSources: Literature","entity_name":"PGBD5","entity_type":"gene"},{"created":"2026-02-06T11:48:05.581296+11:00","panel_name":"Common deletion and duplication syndromes","panel_id":3443,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established CNV, includes MECP2. Severe disorder in males, variable features in females.; to: Well established CNV. Severe disorder in males, variable features in females.","entity_name":"ISCA-37494-Gain","entity_type":"region"},{"created":"2026-02-06T10:03:09.866342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4255","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Classified as LIMITED by ClinGen Aminoacidopathy  GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:004096\r\n\r\nClinGen reports the same 5 probands mentioned below with biochemical abnormalities.\r\nTheir reasoning for classifying this GDA as limited is:\r\n\"There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection.\"\r\n\r\nGiven the biochemical abnormality, gene remain as GREEN.; to: Classified as LIMITED by ClinGen Aminoacidopathy  GCEP on 09/01/2026 - https://search.clinicalgenome.org/CCID:004096\r\n\r\nClinGen reports the same 5 probands mentioned below with biochemical abnormalities.\r\nTheir reasoning for classifying this GDA as limited is:\r\n\"There is the question of whether the additional symptoms of some individuals are related to this disorder, although that is unrelated to the biochemical abnormality and the response to modified diet seems to indicate a connection.\"\r\n\r\nGiven the biochemical abnormality, gene remain as GREEN.","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2026-02-06T10:02:43.190710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4255","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ALDH6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004096; Phenotypes: methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2026-02-06T09:30:07.568044+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.46","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: FGF12 was added\ngene: FGF12 was added to Brugada syndrome. Sources: ClinGen\nMode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGF12 were set to Brugada syndrome MONDO:0015263\nReview for gene: FGF12 was set to RED\nAdded comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:009116\r\n\r\n\"Since the initial gene-disease assertion in 2013, there has been no further compelling genetic evidence corroborating this relationship. Indeed, two separate studies have specifically considered the prevalence of FGF12 variants in Brugada syndrome cohorts and have not found any rare variants within the coding exons of the gene. Given the absence of compelling clinical genetic data over a 13 year period, this gene-disease classification was disputed.\" \nSources: ClinGen","entity_name":"FGF12","entity_type":"gene"},{"created":"2026-02-06T09:23:54.623854+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.45","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Copied gene TMEM168 from panel Incidentalome","entity_name":null,"entity_type":null},{"created":"2026-02-06T09:23:54.392951+11:00","panel_name":"Brugada syndrome","panel_id":60,"panel_version":"0.45","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TMEM168 was added\ngene: TMEM168 was added to Brugada syndrome. Sources: ClinGen\nMode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114\nPhenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:23:04.272683+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.63","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Copied gene ALG10B from panel Incidentalome","entity_name":null,"entity_type":null},{"created":"2026-02-06T09:23:04.031514+11:00","panel_name":"Long QT Syndrome","panel_id":131,"panel_version":"0.63","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ALG10B was added\ngene: ALG10B was added to Long QT Syndrome. Sources: ClinGen\nMode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG10B were set to 37071726\nPhenotypes for gene: ALG10B were set to long QT syndrome MONDO:0002442","entity_name":"ALG10B","entity_type":"gene"},{"created":"2026-02-06T09:21:37.695338+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.420","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ALG10B was added\ngene: ALG10B was added to Incidentalome. Sources: ClinGen\nMode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG10B were set to 37071726\nPhenotypes for gene: ALG10B were set to long QT syndrome MONDO:0002442\nReview for gene: ALG10B was set to RED\nAdded comment: Classified as LIMITED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026 - https://search.clinicalgenome.org/CCID:009115\r\n\r\n6 individuals from one family reported with the same missense variant c.16G>A, p.Gly6Ser. \nSources: ClinGen","entity_name":"ALG10B","entity_type":"gene"},{"created":"2026-02-06T09:18:07.747073+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4255","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"commented on gene: TMEM168","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:17:11.223582+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4255","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Classified gene: TMEM168 as No list","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:17:11.216557+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4255","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Gene: tmem168 has been removed from the panel.","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:17:04.102842+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.419","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TMEM168 was added\ngene: TMEM168 was added to Incidentalome. Sources: ClinGen\nMode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114\nPhenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263\nReview for gene: TMEM168 was set to RED\nAdded comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026- https://search.clinicalgenome.org/CCID:009114 \nSources: ClinGen","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:13:13.150510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4254","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Deleted their review","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:11:44.742457+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4254","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TMEM168 was added\ngene: TMEM168 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: TMEM168 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM168 were set to https://search.clinicalgenome.org/CCID:009114\nPhenotypes for gene: TMEM168 were set to Brugada syndrome MONDO:0015263\nReview for gene: TMEM168 was set to RED\nAdded comment: Classified as DISPUTED by ClinGen Hereditary Cardiovascular Disease GCEP on 15/01/2026- https://search.clinicalgenome.org/CCID:009114 \nSources: ClinGen","entity_name":"TMEM168","entity_type":"gene"},{"created":"2026-02-06T09:06:35.543142+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: IL21: Changed rating: RED","entity_name":"IL21","entity_type":"gene"},{"created":"2026-02-06T09:06:20.078238+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Classified as LIMITED by CliNGen Primary Immune Regulatory Disorders GCEP on 20/01/2026 - https://search.clinicalgenome.org/CCID:005133\r\n\r\nRemain as Amber. ClinGen reports the same proband and siblings as below along with supportive functional assays; to: Classified as LIMITED by CliNGen Primary Immune Regulatory Disorders GCEP on 20/01/2026 - https://search.clinicalgenome.org/CCID:005133\r\n\r\nRemain as RED. ClinGen reports the same proband and siblings as below along with supportive functional assays however only one reported proband with biallelic variant in this gene. ","entity_name":"IL21","entity_type":"gene"},{"created":"2026-02-06T09:05:31.218979+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: IL21-related infantile inflammatory bowel disease MONDO:0014338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL21","entity_type":"gene"},{"created":"2026-02-06T08:15:40.722233+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperinsulinism MONDO:0002177, hyperinsulinemic hypoglycemia, familial, 1 MONDO:0009734; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ABCC8","entity_type":"gene"},{"created":"2026-02-06T08:00:45.358396+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.319","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173\r\n\r\n\"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis.\"; to: Hearing loss has been reported in multiple affected individuals.\r\n\r\nClassified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173\r\n\r\n\"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis.\"","entity_name":"TWNK","entity_type":"gene"},{"created":"2026-02-06T07:59:01.677306+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.319","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Copied gene TWNK from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-06T07:59:01.485915+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.319","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TWNK were set to 32234020; 18593709\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286\nMode of pathogenicity for gene: TWNK was set to Other","entity_name":"TWNK","entity_type":"gene"},{"created":"2026-02-06T07:58:10.076403+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173; to: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173\r\n\r\n\"This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis.\"","entity_name":"TWNK","entity_type":"gene"},{"created":"2026-02-06T07:56:36.667731+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.318","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: GRAP: Changed phenotypes: nonsyndromic genetic hearing loss MONDO:0019497","entity_name":"GRAP","entity_type":"gene"},{"created":"2026-02-06T07:56:23.904804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: GRAP: Changed phenotypes: nonsyndromic genetic hearing loss MONDO:0019497","entity_name":"GRAP","entity_type":"gene"},{"created":"2026-02-06T07:55:11.206444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009173; Phenotypes: Perrault syndrome 5 MONDO:0014504; Mode of inheritance: None","entity_name":"TWNK","entity_type":"gene"},{"created":"2026-02-06T07:52:13.629582+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.318","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Added reviews for gene GRAP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-06T07:51:14.601198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GRAP: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009156; Phenotypes: ; Mode of inheritance: None","entity_name":"GRAP","entity_type":"gene"},{"created":"2026-02-05T19:25:24.466082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004015; Phenotypes: methylmalonic acidemia with homocystinuria, type cblJ MONDO:0013925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCD4","entity_type":"gene"},{"created":"2026-02-05T19:16:57.805828+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.56","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Added reviews for gene LDB3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-05T19:14:47.733860+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045, arrhythmogenic right ventricular cardiomyopathy MONDO:0016587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDB3","entity_type":"gene"},{"created":"2026-02-05T19:08:37.733451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009178; Phenotypes: POLR1C-related disorder MONDO:0700278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLR1C","entity_type":"gene"},{"created":"2026-02-05T19:02:13.947469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:009177; Phenotypes: cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:0024564; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTC1","entity_type":"gene"},{"created":"2026-02-05T19:01:05.875319+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.137","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Added reviews for gene RAP1B from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-05T19:00:04.135476+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4253","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005970; Phenotypes: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:0958000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAP1B","entity_type":"gene"},{"created":"2026-02-05T18:21:58.528794+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.408","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: RBBP8 as ready","entity_name":"RBBP8","entity_type":"gene"},{"created":"2026-02-05T18:21:58.521667+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.408","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rbbp8 has been classified as Green List (High Evidence).","entity_name":"RBBP8","entity_type":"gene"},{"created":"2026-02-05T18:21:44.911541+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.408","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RBBP8 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-05T18:21:44.548176+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.408","user_name":"Chirag Patel","item_type":"entity","text":"gene: RBBP8 was added\ngene: RBBP8 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBBP8 were set to 21998596; 34270086\nPhenotypes for gene: RBBP8 were set to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744","entity_name":"RBBP8","entity_type":"gene"},{"created":"2026-02-05T18:20:20.320844+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.407","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: DNA2 as ready","entity_name":"DNA2","entity_type":"gene"},{"created":"2026-02-05T18:20:20.313644+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.407","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dna2 has been classified as Green List (High Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2026-02-05T18:19:13.659221+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.407","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene DNA2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-05T18:19:13.438004+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.407","user_name":"Chirag Patel","item_type":"entity","text":"gene: DNA2 was added\ngene: DNA2 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: DNA2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to 24389050; 31045292; 23352259; 25635128; 28554558; 37133451\nPhenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, type 4, MIM# 620819; Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156","entity_name":"DNA2","entity_type":"gene"},{"created":"2026-02-05T18:17:52.455802+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CRIPT as ready","entity_name":"CRIPT","entity_type":"gene"},{"created":"2026-02-05T18:17:52.444668+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cript has been classified as Green List (High Evidence).","entity_name":"CRIPT","entity_type":"gene"},{"created":"2026-02-05T18:17:40.163584+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:17:39.325145+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:17:38.434738+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:17:33.657907+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:17:33.649825+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep152 has been classified as Red List (Low Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:17:16.903432+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP152 as Red List (low evidence)","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:17:16.896044+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.406","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep152 has been classified as Red List (Low Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:16:47.223471+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.405","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ATR as ready","entity_name":"ATR","entity_type":"gene"},{"created":"2026-02-05T18:16:47.215473+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.405","user_name":"Chirag Patel","item_type":"entity","text":"Gene: atr has been classified as Green List (High Evidence).","entity_name":"ATR","entity_type":"gene"},{"created":"2026-02-05T18:16:21.551900+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.405","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene CRIPT from panel Microcephalic Primordial Dwarfism and Slender bone dysplasias","entity_name":null,"entity_type":null},{"created":"2026-02-05T18:16:21.380314+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.405","user_name":"Chirag Patel","item_type":"entity","text":"gene: CRIPT was added\ngene: CRIPT was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRIPT were set to 24389050; 27250922; 36630262; 37013901\nPhenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002","entity_name":"CRIPT","entity_type":"gene"},{"created":"2026-02-05T18:16:19.784119+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.404","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: CEP152: Not skeletal dysplasia","entity_name":"CEP152","entity_type":"gene"},{"created":"2026-02-05T18:16:19.310512+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.404","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: CEP152: Not skeletal dysplasia","entity_name":"CEP152","entity_type":"gene"}]}