{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=33","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=31","results":[{"created":"2026-02-13T09:24:39.139347+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.374","user_name":"Rylee Peters","item_type":"entity","text":"gene: CELSR1 was added\ngene: CELSR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CELSR1 were set to 41530147; 36453712\nPhenotypes for gene: CELSR1 were set to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related\nReview for gene: CELSR1 was set to GREEN\nAdded comment: GREEN rating for biallelic neurodevelopmental disorder association:\r\n\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \nSources: Literature","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:22:27.219939+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.665","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: CELSR1 were changed from  to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:22:00.139296+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.664","user_name":"Rylee Peters","item_type":"entity","text":"changed review comment from: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \nSources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \r\nSources: Literature","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:20:14.876655+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.664","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: CELSR1 as Green List (high evidence)","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:20:14.866965+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.664","user_name":"Rylee Peters","item_type":"entity","text":"Gene: celsr1 has been classified as Green List (High Evidence).","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:19:34.402061+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.663","user_name":"Rylee Peters","item_type":"entity","text":"gene: CELSR1 was added\ngene: CELSR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CELSR1 were set to 41530147; 36453712\nReview for gene: CELSR1 was set to GREEN\nAdded comment: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \nSources: Literature","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:16:42.366935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4292","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, MIM# 619319 to Lymphatic malformation 9 (MIM#619319); Neurodevelopmental disorder, MONDO:0700092, CELSR1-related","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:16:24.546705+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4291","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:16:14.652110+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4290","user_name":"Rylee Peters","item_type":"entity","text":"Mode of inheritance for gene: CELSR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-13T09:15:03.750213+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4289","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26855770, 31215153, 31403174, 36453712, 38272662, 41530147; Phenotypes: Lymphatic malformation 9 (MIM#619319), Neurodevelopmental disorder, MONDO:0700092, CELSR1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CELSR1","entity_type":"gene"},{"created":"2026-02-12T21:27:47.885855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4289","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GPD2 as ready","entity_name":"GPD2","entity_type":"gene"},{"created":"2026-02-12T21:27:47.874992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4289","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gpd2 has been classified as Red List (Low Evidence).","entity_name":"GPD2","entity_type":"gene"},{"created":"2026-02-12T21:26:59.540363+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4289","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GPD2 was added\ngene: GPD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPD2 were set to 9070847; 12093800\nPhenotypes for gene: GPD2 were set to type 2 diabetes mellitus MONDO:0005148\nReview for gene: GPD2 was set to RED\nAdded comment: Single case with abnormally low activity of mitochondrial GDH and a rare missense variant. Knockout mouse model has features of both glycerol kinase deficiency and hereditary fructose intolerance. \nSources: Literature","entity_name":"GPD2","entity_type":"gene"},{"created":"2026-02-12T21:07:19.648069+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.373","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GAL from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-12T21:07:19.331514+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.373","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GAL was added\ngene: GAL was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GAL were set to 25691535\nPhenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650","entity_name":"GAL","entity_type":"gene"},{"created":"2026-02-12T21:05:46.338720+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4288","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GAL was added\ngene: GAL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GAL were set to 25691535\nPhenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650\nReview for gene: GAL was set to RED\nAdded comment: 2 monozygotic male twins with familial temporal lobe epilepsy with a de novo heterozygous missense variant (p.A39E). In vitro functional assay showed antagonistic activity against galanin receptor 1 (GalR1)-mediated response, and decreased binding affinity and reduced agonist properties for GalR2. \nSources: Literature","entity_name":"GAL","entity_type":"gene"},{"created":"2026-02-12T17:21:42.045371+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA3A as Red List (low evidence)","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2026-02-12T17:21:42.035586+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema3a has been classified as Red List (Low Evidence).","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2026-02-12T17:21:16.814777+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PROK2 as Red List (low evidence)","entity_name":"PROK2","entity_type":"gene"},{"created":"2026-02-12T17:21:16.808143+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prok2 has been classified as Red List (Low Evidence).","entity_name":"PROK2","entity_type":"gene"},{"created":"2026-02-12T17:20:21.708944+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KISS1R as Red List (low evidence)","entity_name":"KISS1R","entity_type":"gene"},{"created":"2026-02-12T17:20:21.698771+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiss1r has been classified as Red List (Low Evidence).","entity_name":"KISS1R","entity_type":"gene"},{"created":"2026-02-12T17:19:50.406900+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGFR1 as Red List (low evidence)","entity_name":"FGFR1","entity_type":"gene"},{"created":"2026-02-12T17:19:50.395368+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr1 has been classified as Red List (Low Evidence).","entity_name":"FGFR1","entity_type":"gene"},{"created":"2026-02-12T17:19:23.998917+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF8 as Red List (low evidence)","entity_name":"FGF8","entity_type":"gene"},{"created":"2026-02-12T17:19:23.988500+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf8 has been classified as Red List (Low Evidence).","entity_name":"FGF8","entity_type":"gene"},{"created":"2026-02-12T15:55:39.153804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUNDC1 as ready","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:39.146308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rundc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:31.424420+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUNDC1 as Amber List (moderate evidence)","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:31.416534+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rundc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:18.144044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:05.412173+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RUNDC1 as ready","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:05.404569+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rundc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:01.600688+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RUNDC1 as Amber List (moderate evidence)","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:55:01.590287+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rundc1 has been classified as Amber List (Moderate Evidence).","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:54:42.684498+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RUNDC1","entity_type":"gene"},{"created":"2026-02-12T15:51:01.238427+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-46303-Loss as ready","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-12T15:51:01.229411+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-46303-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-12T15:49:09.501567+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for Region: ISCA-46303-Loss were changed from  to 46XY sex reversal 10, MIM#\t616425; 46XX sex reversal 2, MIM#\t278850; Pierre-Robin sequence MONDO:0009869, SOX9-related","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-12T15:46:24.442102+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified Region: ISCA-46303-Loss as Green List (high evidence)","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-12T15:46:24.434491+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-46303-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-12T15:44:16.633197+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TYMP as ready","entity_name":"TYMP","entity_type":"gene"},{"created":"2026-02-12T15:44:16.626054+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tymp has been classified as Amber List (Moderate Evidence).","entity_name":"TYMP","entity_type":"gene"},{"created":"2026-02-12T15:44:14.434982+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TYMP were changed from Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041","entity_name":"TYMP","entity_type":"gene"},{"created":"2026-02-12T15:44:01.175857+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TYMP as Amber List (moderate evidence)","entity_name":"TYMP","entity_type":"gene"},{"created":"2026-02-12T15:44:01.168358+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tymp has been classified as Amber List (Moderate Evidence).","entity_name":"TYMP","entity_type":"gene"},{"created":"2026-02-12T15:43:49.243272+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: None","entity_name":"TYMP","entity_type":"gene"},{"created":"2026-02-12T15:36:21.266025+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR11 as ready","entity_name":"WDR11","entity_type":"gene"},{"created":"2026-02-12T15:36:21.232545+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr11 has been classified as Red List (Low Evidence).","entity_name":"WDR11","entity_type":"gene"},{"created":"2026-02-12T15:36:17.136728+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR11 as Red List (low evidence)","entity_name":"WDR11","entity_type":"gene"},{"created":"2026-02-12T15:36:17.126320+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr11 has been classified as Red List (Low Evidence).","entity_name":"WDR11","entity_type":"gene"},{"created":"2026-02-12T15:28:20.302581+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family reported only with (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes.\r\n\r\nConflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes; to: Single family reported only with heterozygous (p.Cys100Ter) variant and a hypomorphic allele; Steap3/Tsap6 null mice model. The 3 siblings presented with transfusion-dependent hypochromic microcytic anaemia with iron overload. Other features present were hepatosplenomegaly, low serum ferritin, and blood smears revealed distinct aniso-poikilocytosis with hypochromasia, microcytosis and ovalocytes.\r\n\r\nConflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes","entity_name":"STEAP3","entity_type":"gene"},{"created":"2026-02-12T15:25:15.496034+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.662","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTBK1 as ready","entity_name":"TTBK1","entity_type":"gene"},{"created":"2026-02-12T15:25:15.489163+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.662","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttbk1 has been classified as Red List (Low Evidence).","entity_name":"TTBK1","entity_type":"gene"},{"created":"2026-02-12T15:25:00.915854+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.662","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene TTBK1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-12T15:25:00.390725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.662","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTBK1 was added\ngene: TTBK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTBK1 were set to 41545183\nPhenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092","entity_name":"TTBK1","entity_type":"gene"},{"created":"2026-02-12T15:24:06.862046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTBK1 as ready","entity_name":"TTBK1","entity_type":"gene"},{"created":"2026-02-12T15:24:06.851713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttbk1 has been classified as Red List (Low Evidence).","entity_name":"TTBK1","entity_type":"gene"},{"created":"2026-02-12T15:23:57.360700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4286","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTBK1 was added\ngene: TTBK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTBK1 were set to 41545183\nPhenotypes for gene: TTBK1 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: TTBK1 was set to RED\nAdded comment: PMID 41545183 reports 2 individuals from a single family with biallelic loss-of-function frameshift variant (p.Thr634ArgfsTer39) presenting with a severe syndromic neurodevelopmental disorder characterized by global developmental delay, microcephaly, progressive spasticity, non‑ambulatory status, and seizures in the older sibling. No functional studies were performed. \nSources: Literature","entity_name":"TTBK1","entity_type":"gene"},{"created":"2026-02-12T15:09:15.759265+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4285","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene C12orf40 from panel Infertility and Recurrent Pregnancy Loss","entity_name":null,"entity_type":null},{"created":"2026-02-12T15:09:15.028955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4285","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C12orf40 was added\ngene: C12orf40 was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C12orf40 were set to 41580510; 37612290; 37604834\nPhenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related","entity_name":"C12orf40","entity_type":"gene"},{"created":"2026-02-12T15:08:46.360693+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C12orf40 as Green List (high evidence)","entity_name":"C12orf40","entity_type":"gene"},{"created":"2026-02-12T15:08:46.350205+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c12orf40 has been classified as Green List (High Evidence).","entity_name":"C12orf40","entity_type":"gene"},{"created":"2026-02-12T15:08:38.144903+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C12orf40 was added\ngene: C12orf40 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: C12orf40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C12orf40 were set to 41580510; 37612290; 37604834\nPhenotypes for gene: C12orf40 were set to Infertility disorder, MONDO:0005047, C12orf40-related\nReview for gene: C12orf40 was set to GREEN\nAdded comment: PMID 37604834, 37612290 and 41580510 report a total of 8 individuals from 6 unrelated families with biallelic loss-of-function C12ORF40 variants presenting with severe male infertility due to spermatogenic failure (non‑obstructive azoospermia or severe oligoasthenoteratozoospermia). Affected men have normal hormone levels but exhibit meiotic arrest or markedly increased sperm sex‑chromosome aneuploidy. Mouse knockout and knock‑in models recapitulate the infertility phenotype, and in vitro assays demonstrate loss of nucleic‑acid binding activity, supporting pathogenicity. \nSources: Literature","entity_name":"C12orf40","entity_type":"gene"},{"created":"2026-02-12T15:01:06.061389+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2026-02-12T15:01:06.054360+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Amber List (Moderate Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2026-02-12T15:00:42.222550+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZEB2 as Amber List (moderate evidence)","entity_name":"ZEB2","entity_type":"gene"},{"created":"2026-02-12T15:00:42.214957+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Amber List (Moderate Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2026-02-12T15:00:10.173534+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZEB2 was added\ngene: ZEB2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZEB2 were set to 36676725; 25899569\nPhenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, MIM#\t235730\nReview for gene: ZEB2 was set to AMBER\nAdded comment: PMID 25899569 reports four unrelated families with heterozygous loss‑of‑function ZEB2 variants causing Mowat‑Wilson syndrome; one of these families had cataract. PMID 36676725 reports one unrelated family with a de novo nonsense ZEB2 variant presenting with bilateral developmental cataract as part of Mowat‑Wilson syndrome. \nSources: Literature","entity_name":"ZEB2","entity_type":"gene"},{"created":"2026-02-12T14:54:45.140266+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VCAN as ready","entity_name":"VCAN","entity_type":"gene"},{"created":"2026-02-12T14:54:45.129389+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vcan has been classified as Amber List (Moderate Evidence).","entity_name":"VCAN","entity_type":"gene"},{"created":"2026-02-12T14:54:40.828036+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VCAN as Amber List (moderate evidence)","entity_name":"VCAN","entity_type":"gene"},{"created":"2026-02-12T14:54:40.821312+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vcan has been classified as Amber List (Moderate Evidence).","entity_name":"VCAN","entity_type":"gene"},{"created":"2026-02-12T14:54:17.883444+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VCAN was added\ngene: VCAN was added to Cataract. Sources: Literature\nMode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: VCAN were set to 36333947; 29071374\nPhenotypes for gene: VCAN were set to Wagner syndrome 1, MIM#\t143200\nReview for gene: VCAN was set to AMBER\nAdded comment: PMID 29071374 reports 28 individuals from 1 family with heterozygous splice‑acceptor c.4004-1G>A variant presenting with Wagner syndrome (vitreoretinopathy, cataract, retinal detachment). PMID 36333947 reports 4 individuals from 1 family with heterozygous splice‑site indel c.4004-4_c.4004-3delinsCA variant presenting with Wagner vitreoretinopathy (cataract, vitreous syneresis, retinal detachment). \nSources: Literature","entity_name":"VCAN","entity_type":"gene"},{"created":"2026-02-12T13:26:56.863968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:26:44.510556+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.526","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:26:27.322962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:26:09.896043+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4283","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:25:54.006546+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:25:17.368390+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:25:05.947300+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHRS3 were changed from Syndromic disease, MONDO:0002254, DHRS3-related to Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T13:24:40.945279+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHRS3: Changed phenotypes: Craniosynostosis-scoliosis syndrome, MIM# 621499","entity_name":"DHRS3","entity_type":"gene"},{"created":"2026-02-12T11:52:40.180893+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.661","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: TMEM189 as ready","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T11:52:40.167543+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.661","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem189 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T11:52:29.924805+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.411","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: TMEM189 as ready","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T11:52:29.914583+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.411","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem189 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:39:54.764115+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.411","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene TMEM189 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-12T10:39:54.520055+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.411","user_name":"Chirag Patel","item_type":"entity","text":"gene: TMEM189 was added\ngene: TMEM189 was added to Microcephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM189 were set to 41491239\nPhenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:39:17.104335+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.661","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene TMEM189 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-12T10:39:16.760920+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.661","user_name":"Chirag Patel","item_type":"entity","text":"gene: TMEM189 was added\ngene: TMEM189 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM189 were set to 41491239\nPhenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:38:18.913678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4283","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: TMEM189 as ready","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:38:18.903309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4283","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem189 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:37:35.001037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4283","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM189 as Amber List (moderate evidence)","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:37:34.990756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4283","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem189 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T10:37:19.086832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4282","user_name":"Chirag Patel","item_type":"entity","text":"gene: TMEM189 was added\ngene: TMEM189 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM189 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM189 were set to 41491239\nPhenotypes for gene: TMEM189 were set to Neurodevelopmental disorder, MONDO:0700092, PEDS1-related\nReview for gene: TMEM189 was set to AMBER\nAdded comment: 2 individuals from 2 unrelated consanguineous families presenting with microcephaly, global developmental delay, growth retardation, dysmorphic facial features and congenital cataracts (in one case). Both individuals had the same rare homozygous frameshift variant (c.104delC, p.Ala35Valfs*16) in PEDS1 gene (aka TMEM189). The variant segregated in the family. PEDS1 encodes the plasmanylethanolamine desaturase that catalyzes the final step of plasmalogen biosynthesis. Functional studies show the mutant protein is unstable and undetectable in COS7 cells, and mouse Peds1‑/‑ knockouts display microcephaly and neuroanatomical defects mirroring the human phenotype. Rescue of neuronal migration deficits by RNAi‑resistant wild‑type PEDS1 confirms loss‑of‑function as the disease mechanism. \nSources: Literature","entity_name":"TMEM189","entity_type":"gene"},{"created":"2026-02-12T08:14:49.622571+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.421","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DLST from panel Paraganglioma_phaeochromocytoma","entity_name":null,"entity_type":null},{"created":"2026-02-12T08:14:49.285681+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.421","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DLST was added\ngene: DLST was added to Incidentalome. Sources: Expert Review Red,Literature,Expert Review,Expert list\nMode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLST were set to PMID: 30929736, 33180916\nPhenotypes for gene: DLST were set to Paragangliomas 7, MONDO:0032771; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 7, MIM#618475","entity_name":"DLST","entity_type":"gene"},{"created":"2026-02-11T20:36:36.702379+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TENM3 as ready","entity_name":"TENM3","entity_type":"gene"},{"created":"2026-02-11T20:36:36.694299+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tenm3 has been classified as Amber List (Moderate Evidence).","entity_name":"TENM3","entity_type":"gene"},{"created":"2026-02-11T20:36:32.048348+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TENM3 as Amber List (moderate evidence)","entity_name":"TENM3","entity_type":"gene"}]}