{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=511","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=509","results":[{"created":"2023-12-07T12:53:25.727125+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their review","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:53:16.158983+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PLA2G16: Rating: ; Mode of pathogenicity: None; Publications: PMID: 37919452; Phenotypes: Lipodystrophy (MONDO:0006573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:52:44.081062+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their review","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:52:22.808742+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37919452; Phenotypes: Lipodystrophy (MONDO:0006573); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:52:12.096784+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2002","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNJ3 as Amber List (moderate evidence)","entity_name":"KCNJ3","entity_type":"gene"},{"created":"2023-12-07T12:52:12.082222+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2002","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj3 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNJ3","entity_type":"gene"},{"created":"2023-12-07T12:52:03.930260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.167","user_name":"Lilian Downie","item_type":"entity","text":"gene: WBP4 was added\ngene: WBP4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WBP4 were set to PMID: 37425688\nPhenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related\nReview for gene: WBP4 was set to GREEN\nAdded comment: 11 individuals, with dysmorphic ID \r\n3 presented in utero 2x IUGR, 1x ventriculomegaly and polyhydramnios \r\n5 with brain anomalies (corpus callosum and cortical) \nSources: Literature","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-12-07T12:51:05.186658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 37924258; Phenotypes: Leigh syndrome, MONDO:0009723, pediatric arterial ischemic stroke, MONDO:0018585, Moyamoya disease, MONDO:0016820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RNF213","entity_type":"gene"},{"created":"2023-12-07T12:50:19.077122+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their review","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:50:00.615906+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2001","user_name":"Daniel Flanagan","item_type":"entity","text":"changed review comment from: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density. \nSources: Expert list; to: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density. \r\n\r\nKcnj3-knockout mice display hyperactivity and decreased anxiety, while a knock-in mouse line displays spontaneous seizure-like activity.\r\n\r\nSources: Expert list","entity_name":"KCNJ3","entity_type":"gene"},{"created":"2023-12-07T12:49:45.224462+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.4","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PLA2G16 was added\ngene: PLA2G16 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLA2G16 were set to PMID: 37919452\nPhenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)\nReview for gene: PLA2G16 was set to GREEN\nAdded comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.\r\n\r\nNull mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ. \nSources: Literature","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:49:25.317928+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEL1L as ready","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:49:25.304772+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sel1l has been classified as Green List (High Evidence).","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:48:06.834804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: PPID as ready","entity_name":"PPID","entity_type":"gene"},{"created":"2023-12-07T12:48:06.823123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Elena Savva","item_type":"entity","text":"Gene: ppid has been classified as Red List (Low Evidence).","entity_name":"PPID","entity_type":"gene"},{"created":"2023-12-07T12:48:06.186176+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PLA2G16 was added\ngene: PLA2G16 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLA2G16 were set to PMID: 37919452\nPhenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)\nAdded comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.\r\n\r\nNull mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ. \nSources: Literature","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:47:52.642948+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: PPID as ready","entity_name":"PPID","entity_type":"gene"},{"created":"2023-12-07T12:47:52.629923+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Elena Savva","item_type":"entity","text":"Gene: ppid has been classified as Red List (Low Evidence).","entity_name":"PPID","entity_type":"gene"},{"created":"2023-12-07T12:47:23.609881+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEL1L as Green List (high evidence)","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:47:23.599539+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1402","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sel1l has been classified as Green List (High Evidence).","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:46:20.163798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Lauren Rogers","item_type":"entity","text":"changed review comment from: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.\r\n\r\nNull mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte diferentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ. \nSources: Literature; to: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.\r\n\r\nNull mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ. \r\nSources: Literature","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:45:28.712364+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Rylee Peters","item_type":"entity","text":"changed review comment from: Missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.\r\n\r\nFunctional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway. \nSources: Literature; to: Heterozygous missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.\r\n\r\nFunctional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway. \r\nSources: Literature","entity_name":"MARK4","entity_type":"gene"},{"created":"2023-12-07T12:45:26.654632+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.9","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PLA2G16 was added\ngene: PLA2G16 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLA2G16 were set to PMID: 37919452\nPhenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)\nReview for gene: PLA2G16 was set to GREEN\nAdded comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.\r\n\r\nNull mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ. \nSources: Literature","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:45:20.198591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Rylee Peters","item_type":"entity","text":"changed review comment from: Missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.\r\n\r\nFunctional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway. \nSources: Literature; to: Heterozygous missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.\r\n\r\nFunctional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway. \r\nSources: Literature","entity_name":"MARK4","entity_type":"gene"},{"created":"2023-12-07T12:43:06.843236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEL1L as ready","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:43:06.830132+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sel1l has been classified as Green List (High Evidence).","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:42:47.097999+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEL1L as Green List (high evidence)","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:42:47.084791+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5628","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sel1l has been classified as Green List (High Evidence).","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:42:22.457091+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.52","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: SLC19A1: Changed publications: 36517554, 36745868","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2023-12-07T12:42:20.974481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Lauren Rogers","item_type":"entity","text":"gene: PLA2G16 was added\ngene: PLA2G16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PLA2G16 were set to PMID: 37919452\nPhenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)\nReview for gene: PLA2G16 was set to GREEN\nAdded comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.\r\n\r\nNull mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte diferentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ. \nSources: Literature","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T12:41:50.490278+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.232","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ACBD6 was added\ngene: ACBD6 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 37951597\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related\nReview for gene: ACBD6 was set to GREEN\nAdded comment: PMID: 37951597\r\n45 individuals from 28 families with a neurodevelopmental syndrome with complex and progressive movement disorder phenotype. 18 PTCs and splice, 1 missense 1 in frame insertion.\r\n\r\nPhenotypes: weight was >50th percentile in 20/34 patients, all mod-severe GDD, facial dysmorphism in 38/40, mild cerebellar ataxia 35/41, limb spasticity/hypertonia 31/41, gait abnormalities in 33/35, dystonia in 30/31. \nSources: Literature","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-12-07T12:41:43.599785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Rylee Peters","item_type":"entity","text":"gene: MARK4 was added\ngene: MARK4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MARK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK4 were set to PMID: 38041405\nPhenotypes for gene: MARK4 were set to neurodevelopmental disorder (MONDO:0700092), MARK4-related\nMode of pathogenicity for gene: MARK4 was set to Other\nReview for gene: MARK4 was set to AMBER\ngene: MARK4 was marked as current diagnostic\nAdded comment: Missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.\r\n\r\nFunctional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway. \nSources: Literature","entity_name":"MARK4","entity_type":"gene"},{"created":"2023-12-07T12:40:31.105610+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5627","user_name":"Melanie Marty","item_type":"entity","text":"gene: DDX17 was added\ngene: DDX17 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX17 were set to https://www.medrxiv.org/search/DDX17\nPhenotypes for gene: DDX17 were set to Neurodevelopmental disorder (MONDO#0700092), DDX17-related\nReview for gene: DDX17 was set to GREEN\nAdded comment: https://www.medrxiv.org/search/DDX17 (pre-print)\r\n11 patients with het de novo variants in DDX17 (5 NMD, 6 missense).  Patient's phenotype included mild-moderate intellectual disability, delayed speech and language development and global developmental delay. 64% had dysmorphic facial features. Some patients also have gross and fine motor delay, generalized hypotonia, stereotypy, and evidence of autism spectrum disorder.  \r\n\r\nKnockdown of Ddx17 in newborn mice showed impaired axon outgrowth and reduced axon outgrowth and branching was observed in primary cortical neurons in vitro. This result was replicated in Crispant Xenopus tadpoles, which had clear functional neural defects and showed an impaired neurobehavioral phenotype. \nSources: Literature","entity_name":"DDX17","entity_type":"gene"},{"created":"2023-12-07T12:39:50.636014+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.12","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ACBD6 was added\ngene: ACBD6 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACBD6 were set to 37951597\nPhenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related\nReview for gene: ACBD6 was set to GREEN\nAdded comment: PMID: 37951597\r\n45 individuals from 28 families with a neurodevelopmental syndrome with complex and progressive movement disorder phenotype. 18 PTCs and splice, 1 missense 1 in frame insertion.\r\n\r\nPhenotypes: weight was >50th percentile in 20/34 patients, all mod-severe GDD, facial dysmorphism in 38/40, mild cerebellar ataxia 35/41, limb spasticity/hypertonia 31/41, gait abnormalities in 33/35, dystonia in 30/31. \nSources: Literature","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-12-07T12:39:49.977143+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.52","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SLC19A1 was added\ngene: SLC19A1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A1 were set to 36517554,36745868\nPhenotypes for gene: SLC19A1 were set to Combined immunodeficiency, SLC19A1-related MONDO:0015131\nReview for gene: SLC19A1 was set to GREEN\ngene: SLC19A1 was marked as current diagnostic\nAdded comment: PMID: 36745868 report two distantly related patients (last common ancestor 5 generations prior) with the same homozygous missense variant, G348R. The variant is absent from gnomAD, although the residue is not conserved in mammals. Both patients experienced severe recurrent infection, neurologic and hematologic disorders, and gastroenteropathy. Functional studies on patient lymphocytes were consistent with reduced transporter activity.\r\n\r\nPMID: 36517554 report two cousins with immunodeficiency with the same G348R variant as above. Functional studies on patient cells supported loss of transporter function. The patient’s symptoms ameliorated, and hematological and immunological tests normalized in the 2nd month of folinic acid supplementation. \nSources: Literature","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2023-12-07T12:39:44.733897+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5627","user_name":"Rylee Peters","item_type":"entity","text":"gene: MARK4 was added\ngene: MARK4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MARK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MARK4 were set to PMID: 38041405\nPhenotypes for gene: MARK4 were set to neurodevelopmental disorder (MONDO:0700092), MARK4-related\nMode of pathogenicity for gene: MARK4 was set to Other\nReview for gene: MARK4 was set to AMBER\ngene: MARK4 was marked as current diagnostic\nAdded comment: Missense variant, c.604T>C; p.Phe202Leu, identified in two siblings with childhood-onset neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and dysmorphic features. The variant is located in the catalytic domain of the kinase, and is inherited from unaffected mosaic mother.\r\n\r\nFunctional investigation revealed that the variant results in a gain-of-function in the ability of MARK4 to phosphorylate tau and leads to up-regulation of the mTORC1 pathway. \nSources: Literature","entity_name":"MARK4","entity_type":"gene"},{"created":"2023-12-07T12:39:11.275676+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: SEL1L was added\ngene: SEL1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEL1L were set to PMID: 37943610; PMID: 37943617\nPhenotypes for gene: SEL1L were set to Neurodevelopmental disorder, MONDO:0700092, SEL1L-related\nPenetrance for gene: SEL1L were set to Complete\nAdded comment: Wang paper \t\tPMID: 37943610\r\n\r\nSEL1L protein is involved in the SEL1L-HRD1 endoplasmic reticulum (ER)-associated degradation.\r\n\r\nReport two biallelic missense variants in SEL1L in six children from three independent families presenting with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, hypotonia and/or ataxia (termed ERAD-associated neurodevelopment disorder with onset in infancy (ENDI). The variants were hypomorphic and impaired ERAD function.\r\n\r\nIdentified by WES. Parents heterozygous and asymptomatic. P.(Gly585Asp) in Patient 1, p.(Met528Arg) in Patients 2 and 3 (siblings).\r\n\r\nAll variants cause substrate accumulation. The extent of substrate accumulation in knockin cells was modest compared to those in knockout cells, pointing to a hypomorphic nature. \r\n\r\nThey also had a variant in HRD1.\r\n\r\n\r\n\r\nWeis paper \t\tPMID: 37943617\r\n\r\nThird variant p.(Cys141Tyr), biallelic, causing premature death in five patients from a consanguineous family with early-onset neurodevelopmental disorders and agammaglobulinaemia due to severe SEL1L-HRD1 ERAD dysfunction. \r\n\r\nThis variant appears to have a more severe outcome, exhibiting B cell depletion and agammaglobulinaemia, causing the most severe dysfunction among all of the variants described by this group so far. They postulate that functionality of SEL1L-HRD1 ERAD is inversely correlated with disease severity in humans. \r\n\r\nTheir symptoms were dev delay, neurological disorder and agammaglobulinaemia in childhood. Along with severe axial hypotonia, short stature and microcephaly.  \r\n\r\n“Not a complete loss-of-function variant”. \nSources: Literature","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:38:42.838412+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2001","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: KCNJ3 was added\ngene: KCNJ3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: KCNJ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ3 were set to PMID: 37963718\nPhenotypes for gene: KCNJ3 were set to Epilepsy (MONDO#0005027), KCNJ3-related\nReview for gene: KCNJ3 was set to AMBER\nAdded comment: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density. \nSources: Expert list","entity_name":"KCNJ3","entity_type":"gene"},{"created":"2023-12-07T12:38:18.439828+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.165","user_name":"Lilian Downie","item_type":"entity","text":"gene: FOXL1 was added\ngene: FOXL1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: FOXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXL1 were set to PMID: 34633540\nPhenotypes for gene: FOXL1 were set to Otosclerosis 11 #MIM620576\nReview for gene: FOXL1 was set to RED\nAdded comment: Single paper with variant in large AD family from Newfoundland with otosclerosis, hearing loss onset varied from late teens onwards. Segregation not completely convincing, 1 person with the deletion without otosclerosis. Conductive HL, sometimes mixed, not isolated SNHL. Second family with common haplotype and same 15bp deletion with otosclerosis. Functional studies. High population frequency and 3x homozygotes. \nSources: Literature","entity_name":"FOXL1","entity_type":"gene"},{"created":"2023-12-07T12:37:29.661328+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5627","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: SEL1L was added\ngene: SEL1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEL1L were set to PMID: 37943610; PMID: 37943617\nPhenotypes for gene: SEL1L were set to Neurodevelopmental disorder, MONDO:0700092, SEL1L-related\nPenetrance for gene: SEL1L were set to Complete\nReview for gene: SEL1L was set to GREEN\nAdded comment: Wang paper \t\tPMID: 37943610\r\n\r\nSEL1L protein is involved in the SEL1L-HRD1 endoplasmic reticulum (ER)-associated degradation.\r\n\r\nReport two biallelic missense variants in SEL1L in six children from three independent families presenting with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, hypotonia and/or ataxia (termed ERAD-associated neurodevelopment disorder with onset in infancy (ENDI). The variants were hypomorphic and impaired ERAD function.\r\n\r\nIdentified by WES. Parents heterozygous and asymptomatic. P.(Gly585Asp) in Patient 1, p.(Met528Arg) in Patients 2 and 3 (siblings).\r\n\r\nAll variants cause substrate accumulation. The extent of substrate accumulation in knockin cells was modest compared to those in knockout cells, pointing to a hypomorphic nature. \r\n\r\nThey also had a variant in HRD1.\r\n\r\n\r\n\r\nWeis paper \t\tPMID: 37943617\r\n\r\nThird variant p.(Cys141Tyr), biallelic, causing premature death in five patients from a consanguineous family with early-onset neurodevelopmental disorders and agammaglobulinaemia due to severe SEL1L-HRD1 ERAD dysfunction. \r\n\r\nThis variant appears to have a more severe outcome, exhibiting B cell depletion and agammaglobulinaemia, causing the most severe dysfunction among all of the variants described by this group so far. They postulate that functionality of SEL1L-HRD1 ERAD is inversely correlated with disease severity in humans. \r\n\r\nTheir symptoms were dev delay, neurological disorder and agammaglobulinaemia in childhood. Along with severe axial hypotonia, short stature and microcephaly.  \r\n\r\n“Not a complete loss-of-function variant”. \nSources: Literature","entity_name":"SEL1L","entity_type":"gene"},{"created":"2023-12-07T12:37:14.191536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Lilian Downie","item_type":"entity","text":"gene: FOXL1 was added\ngene: FOXL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FOXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXL1 were set to PMID: 34633540\nPhenotypes for gene: FOXL1 were set to Otosclerosis 11 #MIM620576\nReview for gene: FOXL1 was set to RED\nAdded comment: Single paper with variant in large AD family from Newfoundland with otosclerosis, hearing loss onset varied from late teens onwards. Segregation not completely convincing, 1 person with the deletion without otosclerosis. Conductive HL, sometimes mixed, not isolated SNHL. Second family with common haplotype and same 15bp deletion with otosclerosis. Functional studies. High population frequency and 3x homozygotes. \nSources: Literature","entity_name":"FOXL1","entity_type":"gene"},{"created":"2023-12-07T12:37:10.610125+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1401","user_name":"Elena Savva","item_type":"entity","text":"gene: PPID was added\ngene: PPID was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPID was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPID were set to 37977818\nPhenotypes for gene: PPID were set to Stutter disorder, (MONDO:0000723), PPID-related\nReview for gene: PPID was set to RED\nAdded comment: PMID: 37977818 - a large family (10 affected confirmed to have the variant) with stuttering/language disorder and a het missense (p.(Pro270Ser)). Mouse K/I model showed microstructural changes in the corticospinal tract \nSources: Literature","entity_name":"PPID","entity_type":"gene"},{"created":"2023-12-07T12:36:19.070377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1400","user_name":"Lucy Spencer","item_type":"entity","text":"edited their review of gene: ACBD6: Added comment: PMID: 37951597\r\nMuch larger cohort with - 45 individuals from 28 families with a neurodevelopmental syndrome with complex and progressive movement disorder phenotype. 18 PTCs and splice, 1 missense 1 in frame insertion.\r\n\r\nPhenotypes: weight was >50th percentile in 20/34 patients, all mod-severe GDD, facial dysmorphism in 38/40, mild cerebellar ataxia 35/41, limb spasticity/hypertonia 31/41, gait abnormalities in 33/35.; Changed publications: 37951597","entity_name":"ACBD6","entity_type":"gene"},{"created":"2023-12-07T12:36:11.575050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1400","user_name":"Dean Phelan","item_type":"entity","text":"gene: PRPF19 was added\ngene: PRPF19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRPF19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF19 were set to PMID: 37962958\nPhenotypes for gene: PRPF19 were set to Neurodevelopmental disorder (MONDO:0700092), PRPF19-related\nReview for gene: PRPF19 was set to GREEN\nAdded comment: PMID: 37962958\r\nSix unrelated individuals with de novo variants. Five had speech language motor delay, four had formal diagnosis of autism, three hypotonia and one fetus with multiple congenital abnormalities. \nSources: Literature","entity_name":"PRPF19","entity_type":"gene"},{"created":"2023-12-07T12:32:56.510191+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: KIF5B as ready","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:32:56.491303+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:32:18.850239+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: KIF5B as Green List (high evidence)","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:32:18.836001+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:31:55.936130+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: KIF5B as Green List (high evidence)","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:31:55.918111+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Gene: kif5b has been classified as Green List (High Evidence).","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:31:08.754884+11:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.109","user_name":"Seb Lunke","item_type":"entity","text":"gene: KIF5B was added\ngene: KIF5B was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature\nMode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5B were set to 37934770\nPhenotypes for gene: KIF5B were set to osteogenesis imperfecta, MONDO:0019019\nReview for gene: KIF5B was set to GREEN\ngene: KIF5B was marked as current diagnostic\nAdded comment: Four additional patients with three distinct de-novo missense variants and features consistent with osteogenesis imperfecta. All variants are in the Kinesin motor domain (~50% of the protein). Functional data in C. Elegans and cell lines shows impaired protein function. Not clear what distinguishes OI causing variants from other phenotypes for this gene at this stage. Dominant negative effect proposed but not conclusively proven. \nSources: Literature","entity_name":"KIF5B","entity_type":"gene"},{"created":"2023-12-07T12:29:53.596408+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5627","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related","entity_name":"RBFOX1","entity_type":"gene"},{"created":"2023-12-07T12:29:18.007771+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5626","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBFOX1 were set to 24664471","entity_name":"RBFOX1","entity_type":"gene"},{"created":"2023-12-07T12:28:41.632103+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5625","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBFOX1 as Green List (high evidence)","entity_name":"RBFOX1","entity_type":"gene"},{"created":"2023-12-07T12:28:41.619790+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbfox1 has been classified as Green List (High Evidence).","entity_name":"RBFOX1","entity_type":"gene"},{"created":"2023-12-07T12:26:41.280583+11:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNA2 were set to 37133451","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-12-07T12:25:57.808322+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5624","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: RBFOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37962958; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RBFOX1","entity_type":"gene"},{"created":"2023-12-07T12:25:34.874968+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MGP as ready","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:25:34.857776+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgp has been classified as Green List (High Evidence).","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:25:25.838943+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MGP were changed from Keutel syndrome\t245150; Keutel syndrome 245150 to Keutel syndrome\t245150; skeletal dysplasia MONDO:0018230, MGP-related","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:24:45.700193+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:23:12.487248+11:00","panel_name":"Hand and foot malformations","panel_id":3729,"panel_version":"0.72","user_name":"Andrew Fennell","item_type":"entity","text":"reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37675773; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:22:09.039196+11:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.7","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37055165; Phenotypes: Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-12-07T12:22:08.733516+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1400","user_name":"Andrew Fennell","item_type":"entity","text":"reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37675773; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:21:27.254854+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.256","user_name":"Andrew Fennell","item_type":"entity","text":"reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37923733; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MGP","entity_type":"gene"},{"created":"2023-12-07T12:21:26.595551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1400","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Epithelial recurrent erosion dystrophy MIM#122400 to Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Epithelial recurrent erosion dystrophy MIM#122400; Amelogenesis imperfecta MONDO:0019507, COL17A1-related","entity_name":"COL17A1","entity_type":"gene"},{"created":"2023-12-07T12:21:02.769424+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5624","user_name":"Elena Savva","item_type":"entity","text":"gene: PPID was added\ngene: PPID was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPID was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPID were set to 37977818\nPhenotypes for gene: PPID were set to Stutter disorder, (MONDO:0000723), PPID-related\nReview for gene: PPID was set to RED\nAdded comment: PMID: 37977818 - a large family (10 affected confirmed to have the variant) with stuttering/language disorder and a het missense (p.(Pro270Ser)). Mouse K/I model showed microstructural changes in the corticospinal tract \nSources: Literature","entity_name":"PPID","entity_type":"gene"},{"created":"2023-12-07T12:19:51.792523+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1399","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL17A1 were set to 27309958; 29708937; 25676728; 20301304","entity_name":"COL17A1","entity_type":"gene"},{"created":"2023-12-07T12:19:24.848189+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1398","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37979963; Phenotypes: Amelogenesis imperfecta MONDO:0019507, COL17A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL17A1","entity_type":"gene"},{"created":"2023-12-07T12:18:59.638367+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); hypoplastic amelogenesis imperfecta to Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting); Amelogenesis imperfecta MONDO:0019507, COL17A1-related","entity_name":"COL17A1","entity_type":"gene"},{"created":"2023-12-07T12:18:27.158166+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL17A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2023-12-07T12:18:17.482988+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COL17A1: Added comment: 19 unrelated individuals reported with het variants in this gene (several LoF) and isolated amelogenesis imperfecta.; Changed publications: 37979963; Changed phenotypes: Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Amelogenesis imperfecta MONDO:0019507, COL17A1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL17A1","entity_type":"gene"},{"created":"2023-12-07T12:15:52.902823+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5623","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIA3 were set to 32977175; 17989220","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:15:18.813600+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5622","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:14:44.497716+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5621","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38038360; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:13:56.176540+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIA3 were set to 32977175; 17989220","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:13:13.126185+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:12:32.174409+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA3: Added comment: New manuscript describing ~40 individuals with variants in GRIA3, including affected females. Some variants demonstrated to be LoF and others GoF. LoF variants generally caused a milder phenotype.; Changed publications: 32977175, 17989220, 38038360; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:12:01.256088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1398","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIA3 were set to 32977175; 17989220","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:11:38.640555+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T12:11:11.026762+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1396","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA3: Added comment: New manuscript describing ~40 individuals with variants in GRIA3, including affected females. Some variants demonstrated to be LoF and others GoF. LoF variants generally caused a milder phenotype.; Changed publications: 32977175, 17989220, 38038360; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"GRIA3","entity_type":"gene"},{"created":"2023-12-07T08:51:04.034385+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXP1 as ready","entity_name":"FOXP1","entity_type":"gene"},{"created":"2023-12-07T08:51:04.022482+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Green List (High Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2023-12-07T08:49:57.858387+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXP1 as Green List (high evidence)","entity_name":"FOXP1","entity_type":"gene"},{"created":"2023-12-07T08:49:57.846042+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp1 has been classified as Green List (High Evidence).","entity_name":"FOXP1","entity_type":"gene"},{"created":"2023-12-07T08:49:18.649528+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXP1 was added\ngene: FOXP1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP1 were set to 26633542; 28741757; 34109629\nPhenotypes for gene: FOXP1 were set to Intellectual developmental disorder with language impairment with or without autistic features, MIM#\t613670\nReview for gene: FOXP1 was set to GREEN\nAdded comment: Well established gene-disease association. Seizures in ~12% according to Gene Reviews. \nSources: Expert Review","entity_name":"FOXP1","entity_type":"gene"},{"created":"2023-12-07T08:41:06.626245+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VARS as ready","entity_name":"VARS","entity_type":"gene"},{"created":"2023-12-07T08:41:06.612574+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars has been classified as Green List (High Evidence).","entity_name":"VARS","entity_type":"gene"},{"created":"2023-12-07T08:41:01.470778+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VARS as Green List (high evidence)","entity_name":"VARS","entity_type":"gene"},{"created":"2023-12-07T08:41:01.457483+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars has been classified as Green List (High Evidence).","entity_name":"VARS","entity_type":"gene"},{"created":"2023-12-07T08:40:26.915352+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.238","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VARS was added\ngene: VARS was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VARS were set to 30755616; 30755602; 26539891; 29691655; 30275004\nPhenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802\nReview for gene: VARS was set to GREEN\nAdded comment: 20 individuals from 14 families. Microcephaly is part of the phenotype. \nSources: Expert Review","entity_name":"VARS","entity_type":"gene"},{"created":"2023-12-07T08:25:04.630398+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5621","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC4 were changed from intellectual disability; epilepsy; spasticity; microcephaly to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741","entity_name":"TRAPPC4","entity_type":"gene"},{"created":"2023-12-07T08:24:28.087076+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5620","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRAPPC4: Changed phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741","entity_name":"TRAPPC4","entity_type":"gene"},{"created":"2023-12-07T08:24:10.794744+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1997","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC4 were changed from intellectual disability; epilepsy; spasticity; microcephaly to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741","entity_name":"TRAPPC4","entity_type":"gene"},{"created":"2023-12-07T08:23:22.677677+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1996","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRAPPC4: Changed phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741","entity_name":"TRAPPC4","entity_type":"gene"},{"created":"2023-12-07T08:23:02.333033+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1396","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC4 were changed from intellectual disability; epilepsy; spasticity; microcephaly to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741","entity_name":"TRAPPC4","entity_type":"gene"},{"created":"2023-12-07T08:22:29.320267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1395","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRAPPC4: Changed phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741","entity_name":"TRAPPC4","entity_type":"gene"},{"created":"2023-12-06T14:52:26.245994+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307 to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307","entity_name":"AMACR","entity_type":"gene"},{"created":"2023-12-06T14:51:02.460514+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1995","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: KRAS.","entity_name":"KRAS","entity_type":"gene"},{"created":"2023-12-06T13:35:42.340471+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MADD as ready","entity_name":"MADD","entity_type":"gene"}]}