{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1222","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1220","results":[{"created":"2021-09-04T13:37:34.377047+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Rare anaemia_GEL to Red cell disorders","entity_name":null,"entity_type":null},{"created":"2021-09-04T12:11:44.729522+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512, Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:11:30.847466+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512; Neurodevelopmental disorder with seizures and brain abnormalities, MIM#\t619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:10:50.170699+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1182","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512, Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:10:32.430946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9028","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512; Neurodevelopmental disorder with seizures and brain abnormalities, MIM#\t619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:10:09.569957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9027","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512, Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:09:53.567944+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4096","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512; Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:09:24.810417+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4095","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512, Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:08:20.931630+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4095","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:05:44.715727+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:05:14.365637+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:05:00.631676+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1182","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:04:28.663200+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:04:07.163095+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9027","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:03:42.885339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9026","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512; Mode of inheritance: None","entity_name":"CLCN3","entity_type":"gene"},{"created":"2021-09-04T12:01:36.942650+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOM1 as ready","entity_name":"TOM1","entity_type":"gene"},{"created":"2021-09-04T12:01:36.932677+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tom1 has been classified as Red List (Low Evidence).","entity_name":"TOM1","entity_type":"gene"},{"created":"2021-09-04T12:01:27.424158+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9026","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOM1 was added\ngene: TOM1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOM1 were set to 31263572\nPhenotypes for gene: TOM1 were set to Immunodeficiency 85 and autoimmunity, MIM# 619510\nReview for gene: TOM1 was set to RED\nAdded comment: Parent and child reported with onset of atopic eczema and recurrent respiratory infections in the first decade of life; autoimmune enteropathy with vomiting, diarrhoea, and poor overall growth. More variable features included autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies showed hypogammaglobulinaemia and abnormal T-cell function, consistent with a combined immunodeficiency. Missense variant in TOM1, with limited functional data. \nSources: Expert list","entity_name":"TOM1","entity_type":"gene"},{"created":"2021-09-04T11:59:57.743592+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOM1 as ready","entity_name":"TOM1","entity_type":"gene"},{"created":"2021-09-04T11:59:57.732633+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tom1 has been classified as Red List (Low Evidence).","entity_name":"TOM1","entity_type":"gene"},{"created":"2021-09-04T11:59:51.040307+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOM1 was added\ngene: TOM1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: TOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOM1 were set to 31263572\nPhenotypes for gene: TOM1 were set to Immunodeficiency 85 and autoimmunity, MIM#\t619510\nReview for gene: TOM1 was set to RED\nAdded comment: Parent and child reported with onset of atopic eczema and recurrent respiratory infections in the first decade of life; autoimmune enteropathy with vomiting, diarrhoea, and poor overall growth. More variable features included autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies showed hypogammaglobulinaemia and abnormal T-cell function, consistent with a combined immunodeficiency. Missense variant in TOM1, with limited functional data. \nSources: Expert list","entity_name":"TOM1","entity_type":"gene"},{"created":"2021-09-04T00:48:47.940541+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9025","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868155, 34353862; Phenotypes: Periventricular nodular heterotopia 8, OMIM:618185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARF1","entity_type":"gene"},{"created":"2021-09-04T00:10:35.734059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9025","user_name":"Arina Puzriakova","item_type":"entity","text":"gene: GINS2 was added\ngene: GINS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GINS2 were set to 34353863\nPhenotypes for gene: GINS2 were set to Meier-Gorlin syndrome with craniosynostosis\nReview for gene: GINS2 was set to RED\nAdded comment: Sa et al., 2021 (PMID: 34353863) identified a patient presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. A homozygous missense variant (c.341G>T, p.Arg114Leu) in GINS2 was identified that was heterozygous in both unaffected parents. Some supportive functional data included.\r\n\r\nGINS2 is not currently not associated with any phenotype in OMIM or G2P and no additional cases have been identified to date. \nSources: Literature","entity_name":"GINS2","entity_type":"gene"},{"created":"2021-09-03T20:23:03.616830+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAH10 were changed from primary male infertility with asthenoteratozoospermia to Spermatogenic failure 56, MIM#\t619515","entity_name":"DNAH10","entity_type":"gene"},{"created":"2021-09-03T20:22:41.815726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9024","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAH10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 56, MIM# 619515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH10","entity_type":"gene"},{"created":"2021-09-03T20:21:35.252604+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4095","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNB2 were changed from intellectual disability; dysmorphic features to Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM#\t619503","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-09-03T20:20:55.883790+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4094","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNB2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies 619503","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-09-03T20:20:38.828701+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNB2 were changed from intellectual disability; dysmorphic features to Neurodevelopmental disorder with hypotonia and dysmorphic facies\t619503","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-09-03T20:20:19.524458+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9023","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNB2: Changed phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503","entity_name":"GNB2","entity_type":"gene"},{"created":"2021-09-03T20:18:48.573536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9023","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; cerebral ventriculomegaly; limb contractures to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Ventriculomegaly and arthrogryposis, MIM# 619501","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-03T20:18:22.998113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9022","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIDINS220: Changed phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, Ventriculomegaly and arthrogryposis, MIM# 619501","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-03T20:17:57.367303+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIDINS220 were changed from cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, MIM# 619501; cerebral ventriculomegaly; limb contractures","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-03T20:17:24.893989+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIDINS220: Changed phenotypes: Ventriculomegaly and arthrogryposis, MIM# 619501, cerebral ventriculomegaly, limb contractures","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-03T20:17:12.102797+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIDINS220 were changed from cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, MIM# 619501; cerebral ventriculomegaly; limb contractures","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-03T20:16:34.980971+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIDINS220: Changed phenotypes: Ventriculomegaly and arthrogryposis, MIM# 619501, cerebral ventriculomegaly, limb contractures","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-03T13:53:34.580601+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Growth failure in early childhood to Growth failure\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-09-03T13:51:24.675349+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-09-03T13:50:39.395520+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZFP57: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:50:30.615590+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFP57 as ready","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:50:30.605394+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfp57 has been classified as Green List (High Evidence).","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:50:28.357844+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFP57 were changed from diabetes mellitus, transient neonatal, 1MONDO:0011073; Diabetes mellitus, transient neonatal 1 OMIM:601410; IUGR; Multi Locus Imprinting Disturbance to Diabetes mellitus, transient neonatal 1, MIM# 601410","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:49:41.160809+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFP57 as Green List (high evidence)","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:49:41.150285+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfp57 has been classified as Green List (High Evidence).","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:49:31.415872+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393; Phenotypes: Diabetes mellitus, transient neonatal 1, MIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFP57","entity_type":"gene"},{"created":"2021-09-03T13:47:33.178501+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GOSR2 as Green List (high evidence)","entity_name":"GOSR2","entity_type":"gene"},{"created":"2021-09-03T13:47:33.174069+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Additional cases reported with muscular dystrophy","entity_name":"GOSR2","entity_type":"gene"},{"created":"2021-09-03T13:47:33.151732+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gosr2 has been classified as Green List (High Evidence).","entity_name":"GOSR2","entity_type":"gene"},{"created":"2021-09-03T13:46:22.287222+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.91","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34167170, 33639315, 33639315, 29855340, DOI:https://doi.org/10.1016/j.nmd.2013.06.404; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, congenital muscluar dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GOSR2","entity_type":"gene"},{"created":"2021-09-03T13:40:29.835564+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PADI6 as ready","entity_name":"PADI6","entity_type":"gene"},{"created":"2021-09-03T13:40:29.826431+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: padi6 has been classified as Amber List (Moderate Evidence).","entity_name":"PADI6","entity_type":"gene"},{"created":"2021-09-03T13:40:27.708648+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PADI6 were changed from miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome to IUGR","entity_name":"PADI6","entity_type":"gene"},{"created":"2021-09-03T13:40:10.765372+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.401","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other","entity_name":"PADI6","entity_type":"gene"},{"created":"2021-09-03T13:39:59.409847+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PADI6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33221824, 32928291, 29574422; Phenotypes: IUGR; Mode of inheritance: Other","entity_name":"PADI6","entity_type":"gene"},{"created":"2021-09-03T13:31:06.229430+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP7 as ready","entity_name":"NLRP7","entity_type":"gene"},{"created":"2021-09-03T13:31:06.219507+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp7 has been classified as Amber List (Moderate Evidence).","entity_name":"NLRP7","entity_type":"gene"},{"created":"2021-09-03T13:31:04.030183+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.400","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRP7 were changed from hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1\tOMIM:231090; IUGR; Multi Locus Imprinting Disturbance to IUGR","entity_name":"NLRP7","entity_type":"gene"},{"created":"2021-09-03T13:30:47.995747+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.399","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other","entity_name":"NLRP7","entity_type":"gene"},{"created":"2021-09-03T13:30:37.089684+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 28561018; Phenotypes: IUGR; Mode of inheritance: Other","entity_name":"NLRP7","entity_type":"gene"},{"created":"2021-09-03T11:57:07.491750+10:00","panel_name":"Myopathy Superpanel","panel_id":3101,"panel_version":"1.43","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Myopathy - paediatric onset; Myopathy - adult onset; Muscular dystrophy_Paediatric; Rhabdomyolysis; Limb Girdle Muscular Dystrophy","entity_name":null,"entity_type":null},{"created":"2021-09-03T11:45:13.369069+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9022","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHRM1 as ready","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:45:13.358817+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9022","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:45:01.435071+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4094","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHRM1 as ready","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:45:01.423980+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4094","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:44:17.187798+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4094","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHRM1 as Amber List (moderate evidence)","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:44:17.176288+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4094","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:42:56.442259+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4093","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRM1 was added\ngene: CHRM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHRM1 were set to 34212451; 31981491; 12483218\nPhenotypes for gene: CHRM1 were set to Neurodevelopmental delay; intellectual disability; autism\nReview for gene: CHRM1 was set to AMBER\nAdded comment: PMID: 34212451 - 2 unrelated cases with de novo missense variants (p.Pro380Leu and p.Phe425Ser), one case with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and the second case with mild dysmorphism, global developmental delay, and moderate intellectual disability. In vitro biochemical analyses of p.Pro380Leu demonstrated a reduction in protein levels, impaired cellular trafficking, and defective activation of intracellular signaling pathways.\r\nPMID: 31981491 - an autism spectrum disorder (no other information on phenotype, except ascertained to have severe neurodevelopmental delay) case with a de novo missense variant p.(Arg210Leu)\r\nPMID: 12483218 - null mouse model assessing memory demonstrated selective cognitive dysfunction. \nSources: Literature","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:39:41.980808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9022","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHRM1 as Amber List (moderate evidence)","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:39:41.968919+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9022","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T11:37:11.149740+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9021","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRM1 was added\ngene: CHRM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHRM1 were set to 34212451; 31981491; 12483218\nPhenotypes for gene: CHRM1 were set to Neurodevelopmental delay; intellectual disability; autism\nReview for gene: CHRM1 was set to AMBER\nAdded comment: PMID: 34212451 - 2 unrelated cases with de novo missense variants (p.Pro380Leu and p.Phe425Ser), one case with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and the second case with mild dysmorphism, global developmental delay, and moderate intellectual disability. In vitro biochemical analyses of p.Pro380Leu demonstrated a reduction in protein levels, impaired cellular trafficking, and defective activation of intracellular signaling pathways.\r\nPMID: 31981491 - an autism spectrum disorder (no other information on phenotype, except ascertained to have severe neurodevelopmental delay) case with a de novo missense variant p.(Arg210Leu)\r\nPMID: 12483218 - null mouse model assessing memory demonstrated selective cognitive dysfunction. \nSources: Literature","entity_name":"CHRM1","entity_type":"gene"},{"created":"2021-09-03T09:28:02.433084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9020","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF20 as ready","entity_name":"FGF20","entity_type":"gene"},{"created":"2021-09-03T09:28:02.414070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf20 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF20","entity_type":"gene"},{"created":"2021-09-03T09:27:53.951247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9020","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF20 as Amber List (moderate evidence)","entity_name":"FGF20","entity_type":"gene"},{"created":"2021-09-03T09:27:53.937878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf20 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF20","entity_type":"gene"},{"created":"2021-09-03T09:27:24.175679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9019","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGF20 was added\ngene: FGF20 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF20 were set to 22698282\nPhenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721\nReview for gene: FGF20 was set to AMBER\nAdded comment: Multiple affected fetuses in a consanguineous family; functional data. \nSources: Expert Review","entity_name":"FGF20","entity_type":"gene"},{"created":"2021-09-03T09:21:05.091110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9018","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGA8 as ready","entity_name":"ITGA8","entity_type":"gene"},{"created":"2021-09-03T09:21:05.073666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9018","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga8 has been classified as Green List (High Evidence).","entity_name":"ITGA8","entity_type":"gene"},{"created":"2021-09-03T09:20:57.819230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9018","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITGA8 were changed from  to Renal hypodysplasia/aplasia 1, MIM# 191830","entity_name":"ITGA8","entity_type":"gene"},{"created":"2021-09-03T09:20:37.522299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9017","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITGA8 were set to ","entity_name":"ITGA8","entity_type":"gene"},{"created":"2021-09-03T09:18:01.716892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9016","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITGA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA8","entity_type":"gene"},{"created":"2021-09-03T09:17:44.642507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9015","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439109; Phenotypes: Renal hypodysplasia/aplasia 1, MIM# 191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA8","entity_type":"gene"},{"created":"2021-09-02T20:11:00.352919+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP5 as ready","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:11:00.342488+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp5 has been classified as Amber List (Moderate Evidence).","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:10:55.548363+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.398","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRP5 were changed from body asymmetry; Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR to Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:10:22.171391+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.397","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:10:12.221169+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLRP5 as Amber List (moderate evidence)","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:10:12.210987+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp5 has been classified as Amber List (Moderate Evidence).","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:09:59.754500+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: A number of patients with IUGR and failure of catch up have an imprinting error (within the spectrum of Silver Russell syndrome) caused by mutations in NLRP2 in the MOTHER of the patient.\r\n\r\nNote that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multi-locus imprinting disturbance through methylation testing or vice versa, methylation abnormalities in offspring may prompt genomic evaluation of the mother.\r\n\r\nCurrent trio filtering protocols may not account for this adequately.; to: A number of patients with IUGR and failure of catch up have an imprinting error (within the spectrum of Silver Russell syndrome) caused by mutations in NLRP5 in the MOTHER of the patient.\r\n\r\nNote that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multi-locus imprinting disturbance through methylation testing or vice versa, methylation abnormalities in offspring may prompt genomic evaluation of the mother.\r\n\r\nCurrent trio filtering protocols may not account for this adequately.","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T20:09:44.784186+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: IUGR; Mode of inheritance: Other","entity_name":"NLRP5","entity_type":"gene"},{"created":"2021-09-02T18:05:44.819989+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT3 as ready","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-09-02T18:05:44.810376+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat3 has been classified as Green List (High Evidence).","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-09-02T18:05:39.531411+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAT3 as Green List (high evidence)","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-09-02T18:05:39.522117+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat3 has been classified as Green List (High Evidence).","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-09-02T18:05:15.749474+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:NPR2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-09-02T18:05:04.323039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9015","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPR2 as ready","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-09-02T18:05:04.302562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9015","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr2 has been classified as Green List (High Evidence).","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-09-02T18:04:57.377616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9015","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPR2 were changed from  to Acromesomelic dysplasia, Maroteaux type MIM# 602875; Epiphyseal chondrodysplasia, Miura type, MIM# 615923; Short stature with nonspecific skeletal abnormalities, MIM# 616255","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-09-02T18:04:39.298812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9014","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPR2 were set to ","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-09-02T18:04:18.302561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9013","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-09-02T18:03:58.671913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9012","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 15 unrelated families; Biallelic (missense, nonsense, frameshift, splice) NPR2 variants; loss of function; multiple mouse models.\r\n\r\nDisorder is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs (disproportionate) with skeletal growth falling off sharply after birth.; to: Bi-allelic variants: Over 15 unrelated families; Biallelic (missense, nonsense, frameshift, splice) NPR2 variants; loss of function; multiple mouse models.\r\n\r\nDisorder is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs (disproportionate) with skeletal growth falling off sharply after birth.\r\n\r\nMono-allelic variants have been linked to both tall stature and short stature disorders. Multiple families.","entity_name":"NPR2","entity_type":"gene"},{"created":"2021-09-02T18:03:24.908179+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9012","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NPR2: Changed publications: 31555216, 16384845, 15146390, 22870295, 24057292, 24259409, 16384845, 24471569; Changed phenotypes: Acromesomelic dysplasia, Maroteaux type MIM# 602875, Epiphyseal chondrodysplasia, Miura type, MIM# 615923, Short stature with nonspecific skeletal abnormalities, MIM# 616255; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPR2","entity_type":"gene"}]}