{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=741","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=739","results":[{"created":"2022-09-27T13:00:22.630195+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.121","user_name":"Krithika Murali","item_type":"entity","text":"gene: TBX15 was added\ngene: TBX15 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBX15 were set to 19068278; 24039145\nPhenotypes for gene: TBX15 were set to Cousin syndrome - MIM#260660\nReview for gene: TBX15 was set to GREEN\nAdded comment: Rhizomelic/mesomelic limb shortening described and other skeletal anomalies with possibility of prenatal detection. \nSources: Literature, Expert list","entity_name":"TBX15","entity_type":"gene"},{"created":"2022-09-27T12:57:01.400567+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP syndrome: ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); 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":"MBTPS2","entity_type":"gene"},{"created":"2022-09-27T12:51:10.476687+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARVELD2","entity_type":"gene"},{"created":"2022-09-27T12:45:47.229614+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2022-09-27T08:55:41.264643+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2022-09-27T08:51:36.867277+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-mannosidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2022-09-27T08:45:07.600328+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27932480; Phenotypes: congenital nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAGI2","entity_type":"gene"},{"created":"2022-09-27T08:39:08.117067+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Multicentric carpotarsal osteolysis syndrome, renal failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAFB","entity_type":"gene"},{"created":"2022-09-27T08:27:52.444152+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MAD2L2: Rating: RED; Mode of pathogenicity: None; Publications: 27500492; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAD2L2","entity_type":"gene"},{"created":"2022-09-26T20:39:55.782784+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIG4.","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-26T20:39:34.060267+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIG4.","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-26T20:39:15.036255+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIG4.","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-26T20:38:53.330988+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX4.","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:38:32.325300+10:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX4.","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:38:14.601599+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX4.","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:37:58.792224+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX4 as ready","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:37:58.783443+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx4 has been classified as Red List (Low Evidence).","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:37:54.645646+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIG4 were changed from Severe combined immunodeficiency with sensitivity to ionizing radiation to LIG4 syndrome, MIM# 606593","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-26T20:37:36.492211+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-26T20:36:55.445471+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX4 were changed from  to Pituitary hormone deficiency, combined, 4, MIM# 262700","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:35:27.147332+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LIFR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:35:14.278309+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIFR as ready","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:35:14.263657+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lifr has been classified as Red List (Low Evidence).","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:35:04.179107+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:34:42.855100+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:34:40.622299+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LIFR: Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:34:14.437224+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIFR as Red List (low evidence)","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:34:14.420136+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lifr has been classified as Red List (Low Evidence).","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:34:01.911350+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIFR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"LIFR","entity_type":"gene"},{"created":"2022-09-26T20:33:25.991273+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX4 as Red List (low evidence)","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:33:25.981672+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx4 has been classified as Red List (Low Evidence).","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:32:54.017165+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:31:50.491001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX4.","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:31:34.014056+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX4 as ready","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:31:33.989702+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx4 has been classified as Green List (High Evidence).","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:31:27.625304+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:31:15.242240+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX4.","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:31:03.206291+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX4","entity_type":"gene"},{"created":"2022-09-26T20:29:51.316379+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:29:34.230894+10:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:29:15.263490+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:28:10.792985+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:27:47.557771+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:27:16.568170+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:27:16.544112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:27:11.306776+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LHX3.","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:26:52.241886+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: None","entity_name":"LHX3","entity_type":"gene"},{"created":"2022-09-26T20:25:13.542682+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHFPL5 as ready","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-09-26T20:25:13.533524+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhfpl5 has been classified as Green List (High Evidence).","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-09-26T20:24:57.526585+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHFPL5 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 67, MIM# 610265","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-09-26T20:24:42.718816+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHFPL5","entity_type":"gene"},{"created":"2022-09-26T20:22:42.568804+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEPR as ready","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:22:42.559421+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lepr has been classified as Green List (High Evidence).","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:22:36.362828+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:22:22.507176+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Tag clinical trial tag was added to gene: LEPR.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:21:58.749109+10:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LEPR.\nTag clinical trial tag was added to gene: LEPR.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:20:46.411136+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LEPR.\nTag clinical trial tag was added to gene: LEPR.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:20:22.902868+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LEPR.\nTag clinical trial tag was added to gene: LEPR.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:20:10.135493+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEPR were set to ","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:19:37.682970+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LEPR.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:19:26.510454+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.\r\n\r\nFurther clinical trial pending.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.\r\n\r\nFurther clinical trial due to recruit.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:19:11.881695+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.\r\n\r\nFurther clinical trial pending.","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:18:30.225835+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 33137293; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEPR","entity_type":"gene"},{"created":"2022-09-26T20:15:03.950522+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ClinGen: 'strong actionability' in paediatric patients.\r\n\r\nFor review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age.\r\n\r\nElevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients.\r\n\r\nFor review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.\r\n\r\nElevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:13:44.051802+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: For review. Treatment is supportive.; to: For review. Variable severity. Treatment is supportive.","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:13:27.524994+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS2 as ready","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:13:27.507920+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars2 has been classified as Red List (Low Evidence).","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:13:20.320771+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS2 were changed from Perrault syndrome to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM#\t615300","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:12:25.639796+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LARS2 as Red List (low evidence)","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:12:25.629026+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars2 has been classified as Red List (Low Evidence).","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:12:11.818940+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARS2","entity_type":"gene"},{"created":"2022-09-26T20:07:16.518024+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDLR as ready","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:07:16.507646+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldlr has been classified as Green List (High Evidence).","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:07:11.540991+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDLR were changed from Hypercholesterolemia to Hypercholesterolemia, familial, 1, MIM# 143890","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:06:58.637781+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LDLR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:06:41.559893+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LDLR: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:06:28.002457+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LDLR.","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:06:14.598172+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-09-26T20:02:11.898496+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARGE1 as ready","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T20:02:11.888543+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Red List (Low Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T20:02:06.967170+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARGE1 were changed from Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T20:01:46.862408+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LARGE1 as Red List (low evidence)","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T20:01:46.854228+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Red List (Low Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T20:01:34.667926+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARGE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2022-09-26T19:45:54.164322+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMTOR2 as ready","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-26T19:45:54.156446+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamtor2 has been classified as Red List (Low Evidence).","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-26T19:45:49.153582+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMTOR2 were set to ","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-26T19:45:38.126472+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMTOR2 as Red List (low evidence)","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-26T19:45:38.118212+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamtor2 has been classified as Red List (Low Evidence).","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2022-09-26T19:44:27.976310+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMP2 as ready","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:44:27.961963+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp2 has been classified as Red List (Low Evidence).","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:43:43.094827+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMP2 were changed from Danon disease to Danon disease, MIM# 300257","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:43:30.585732+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMP2 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":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:43:07.365696+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMP2 as Red List (low evidence)","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:43:07.357067+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamp2 has been classified as Red List (Low Evidence).","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:42:57.768212+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LAMP2.","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:42:43.842403+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMP2: Changed rating: RED","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:42:31.971026+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; 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":"LAMP2","entity_type":"gene"},{"created":"2022-09-26T19:40:54.473977+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMC2 as ready","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-26T19:40:54.463966+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamc2 has been classified as Red List (Low Evidence).","entity_name":"LAMC2","entity_type":"gene"}]}