{"count":220360,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=825","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=823","results":[{"created":"2022-05-29T16:24:07.212014+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCK","entity_type":"gene"},{"created":"2022-05-29T16:23:07.471342+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCK as ready","entity_name":"GCK","entity_type":"gene"},{"created":"2022-05-29T16:23:07.458026+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gck has been classified as Green List (High Evidence).","entity_name":"GCK","entity_type":"gene"},{"created":"2022-05-29T16:22:43.190189+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCK were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851 to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)","entity_name":"GCK","entity_type":"gene"},{"created":"2022-05-29T16:22:29.826884+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCK were set to ","entity_name":"GCK","entity_type":"gene"},{"created":"2022-05-29T16:21:57.503624+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GINS1 were changed from  to Immunodeficiency 55, OMIM #617827","entity_name":"GINS1","entity_type":"gene"},{"created":"2022-05-29T16:20:15.813594+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4800","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFM2 as ready","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:20:15.801652+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfm2 has been classified as Green List (High Evidence).","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:20:07.325387+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4800","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFM2 were set to PMID: 22700954, 26016410, 29075935","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:18:45.718160+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFM2 as ready","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:18:45.705926+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfm2 has been classified as Green List (High Evidence).","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:18:38.172349+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFM2 were changed from  to Combined oxidative phosphorylation deficiency 39, OMIM #618397","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:17:55.459762+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFM2 were set to 22700954; 26016410; 29075935","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:17:16.148450+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.825","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFM2 were set to ","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:14:25.586763+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.824","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:13:19.389053+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.823","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFM2","entity_type":"gene"},{"created":"2022-05-29T16:12:10.351210+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GIGYF2 as ready","entity_name":"GIGYF2","entity_type":"gene"},{"created":"2022-05-29T16:12:10.319886+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gigyf2 has been classified as Amber List (Moderate Evidence).","entity_name":"GIGYF2","entity_type":"gene"},{"created":"2022-05-29T16:10:28.012014+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA2 as ready","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:10:27.998005+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Green List (High Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:10:24.118033+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA2 were changed from  to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:09:49.733593+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBA2 were set to ","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:09:17.460004+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.477","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:08:44.483092+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:08:22.981893+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA2 as ready","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:08:22.969584+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Green List (High Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:07:36.691127+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409; Spastic paraplegia 46, 614409 to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:07:08.749264+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBA2 were set to ","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-05-29T16:03:47.849338+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAN as ready","entity_name":"GAN","entity_type":"gene"},{"created":"2022-05-29T16:03:47.818803+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gan has been classified as Green List (High Evidence).","entity_name":"GAN","entity_type":"gene"},{"created":"2022-05-29T16:03:29.834769+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAN were changed from HMSN; Giant axonal neuropathy-1 to Giant axonal neuropathy-1, MIM# 256850","entity_name":"GAN","entity_type":"gene"},{"created":"2022-05-29T16:03:20.519745+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAN were set to ","entity_name":"GAN","entity_type":"gene"},{"created":"2022-05-29T16:00:59.148524+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR19 as ready","entity_name":"WDR19","entity_type":"gene"},{"created":"2022-05-29T16:00:59.133573+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr19 has been classified as Green List (High Evidence).","entity_name":"WDR19","entity_type":"gene"},{"created":"2022-05-29T15:58:42.015055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATG16L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ATG16L1","entity_type":"gene"},{"created":"2022-05-29T12:14:06.702270+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:13:49.752391+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:13:31.373997+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:12:58.583743+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:12:43.545329+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4799","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:12:06.685921+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4798","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:11:46.028898+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:11:24.215869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:11:05.074399+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM#\t619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:10:29.337565+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895","entity_name":"PLCH1","entity_type":"gene"},{"created":"2022-05-29T12:07:50.561734+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-05-29T12:07:14.740709+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-05-29T12:06:59.040291+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-05-29T12:06:16.009860+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-05-29T12:05:46.444869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-05-29T12:05:22.794671+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TULP3","entity_type":"gene"},{"created":"2022-05-29T12:03:05.516356+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IKBKG: Changed publications: 31874111, 35289316","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:02:48.452595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKBKG were set to ","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:02:27.782422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300 to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:01:47.875360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IKBKG: Added comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).\r\n\r\nNote variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; Changed phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:00:33.606052+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKBKG as ready","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:00:33.584177+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:00:17.464739+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKBKG as Green List (high evidence)","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T12:00:17.449911+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-29T11:59:41.859014+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKBKG was added\ngene: IKBKG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IKBKG were set to 31874111; 35289316\nPhenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked, MIM#\t301081\nReview for gene: IKBKG was set to GREEN\nAdded comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature.\r\n\r\n6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).\r\n\r\nNote variants in this gene are associated with immunodeficiency +/- ectodermal features. \nSources: Expert list","entity_name":"IKBKG","entity_type":"gene"},{"created":"2022-05-27T18:37:51.414802+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO9A were set to 27259756; 29462312; 26752647","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:37:37.572432+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO9A as Amber List (moderate evidence)","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:37:37.560389+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:37:25.104090+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; to: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.\r\n\r\nHowever, also note reports of fetal akinesia and hydrocephalus, which are pertinent to this panel.","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:36:24.897811+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYO9A: Changed publications: 31130284, 30237576","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:34:43.415031+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:34:28.185094+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO9A as Amber List (moderate evidence)","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:34:28.170586+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:34:20.315752+10:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER; Changed phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:33:53.995845+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO9A as Amber List (moderate evidence)","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:33:53.980145+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:33:44.940195+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:30:11.774966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO9A as Amber List (moderate evidence)","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:30:11.762313+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:29:49.838096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:29:29.915665+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO9A were changed from MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198 to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:28:56.682019+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO9A as Amber List (moderate evidence)","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:28:56.663665+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T18:28:25.868623+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO9A","entity_type":"gene"},{"created":"2022-05-27T10:44:36.179350+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.22","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: SPTAN1: Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans.\r\n\r\nXie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation.\r\n\r\nVan de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.; Changed publications: PMID: 35150594, 34526651, 31515523; Changed phenotypes: Spastic Paraplegia","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-27T10:43:18.187505+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.28","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SPTAN1 as Green List (high evidence)","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-27T10:43:18.176152+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.28","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sptan1 has been classified as Green List (High Evidence).","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-27T10:43:03.417296+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.27","user_name":"Chirag Patel","item_type":"entity","text":"gene: SPTAN1 was added\ngene: SPTAN1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SPTAN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTAN1 were set to PMID: 35150594, 34526651, 31515523\nPhenotypes for gene: SPTAN1 were set to Spastic Paraplegia\nReview for gene: SPTAN1 was set to GREEN\nAdded comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans. \r\n\r\nXie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation. \r\n\r\nVan de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat. \nSources: Literature","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-27T06:10:54.073027+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4798","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental and epileptic encephalopathy 102, MIM# 619881","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:10:15.561981+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4797","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:09:52.515090+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1609","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:09:09.791179+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1608","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:08:51.778871+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:08:16.951424+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:07:52.879048+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-27T06:07:24.414359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A3","entity_type":"gene"},{"created":"2022-05-26T10:17:34.234141+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.111","user_name":"Lucy Spencer","item_type":"entity","text":"gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZDHHC9 were set to 29681091\nReview for gene: ZDHHC9 was set to GREEN\nAdded comment: Macrocephaly reported in at least 5 individuals with ZDHHC9 variants and related conditions \nSources: Literature","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-05-26T09:30:56.895092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.13","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: FAT2 were set to 29053796","entity_name":"FAT2","entity_type":"gene"},{"created":"2022-05-26T09:30:44.079957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.13","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: FAT2 as Green List (high evidence)","entity_name":"FAT2","entity_type":"gene"},{"created":"2022-05-26T09:30:44.067193+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.13","user_name":"Elena Savva","item_type":"entity","text":"Gene: fat2 has been classified as Green List (High Evidence).","entity_name":"FAT2","entity_type":"gene"},{"created":"2022-05-26T09:30:24.310134+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.12","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33884300, 29053796; Phenotypes: Spinocerebellar ataxia 45, MIM#617769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"FAT2","entity_type":"gene"},{"created":"2022-05-26T09:14:59.764108+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887","entity_name":"GFRA1","entity_type":"gene"},{"created":"2022-05-26T09:14:42.282811+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFRA1","entity_type":"gene"},{"created":"2022-05-26T09:14:06.088165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887","entity_name":"GFRA1","entity_type":"gene"},{"created":"2022-05-26T09:13:45.648707+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GFRA1: Changed phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887","entity_name":"GFRA1","entity_type":"gene"}]}