{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=592","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=590","results":[{"created":"2023-06-02T10:46:30.367224+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.154","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: DM1 as Green List (high evidence)","entity_name":"DM1","entity_type":"str"},{"created":"2023-06-02T10:46:30.356790+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.154","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm1 has been classified as Green List (High Evidence).","entity_name":"DM1","entity_type":"str"},{"created":"2023-06-02T10:46:15.578969+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.153","user_name":"Bryony Thompson","item_type":"entity","text":"STR: DM1 was added\nSTR: DM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DM1 were set to 20301344; 29325606\nPhenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900\nReview for STR: DM1 was set to GREEN\nSTR: DM1 was marked as clinically relevant\nAdded comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]\r\nRNA toxic gain of function is mechanism of disease\r\nPremutation: 35-49 repeats, no clinical signs\r\nMild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia\r\nClassic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia\r\nCongenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults \nSources: Expert list","entity_name":"DM1","entity_type":"str"},{"created":"2023-06-02T10:44:29.467751+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 24766810; Phenotypes: Pontocerebellar hypoplasia, type 10 (MIM#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2023-06-02T10:42:54.420577+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHKB as ready","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:42:54.409972+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chkb has been classified as Amber List (Moderate Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:42:35.292358+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHKB as Amber List (moderate evidence)","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:42:35.278512+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chkb has been classified as Amber List (Moderate Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:42:10.490415+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.151","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHKB was added\ngene: CHKB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKB were set to 37011121\nPhenotypes for gene: CHKB were set to megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy\nReview for gene: CHKB was set to AMBER\nAdded comment: 3/47 affected individuals have been diagnosed with adolescent-onset limb-girdle muscular dystrophy. 2 presented with rhabdomyolysis. 1 had mild intellectual disability. Behaviour abnormalities and dilated cardiomyopathy were not observed. \nSources: Literature","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:39:07.533838+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type\tMIM#602541 to megaconial type congenital muscular dystrophy MONDO:0011246; recurrent rhabdomyolysis; CHKB-Related Muscular Dystrophy","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:38:44.173449+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.180","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CHKB were set to 26782016","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:38:20.736168+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.179","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHKB as Amber List (moderate evidence)","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:38:20.723778+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.179","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chkb has been classified as Amber List (Moderate Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:38:04.484604+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.178","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37011121; Phenotypes: megaconial type congenital muscular dystrophy MONDO:0011246, recurrent rhabdomyolysis, CHKB-Related Muscular Dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:29:52.726598+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.178","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"CHKB","entity_type":"gene"},{"created":"2023-06-02T10:28:21.484445+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.178","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"AHCY","entity_type":"gene"},{"created":"2023-06-02T10:27:39.187937+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.178","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: AHCY were set to 28779239","entity_name":"AHCY","entity_type":"gene"},{"created":"2023-06-02T10:27:03.836531+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.177","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AHCY as Green List (high evidence)","entity_name":"AHCY","entity_type":"gene"},{"created":"2023-06-02T10:27:03.825565+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.177","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ahcy has been classified as Green List (High Evidence).","entity_name":"AHCY","entity_type":"gene"},{"created":"2023-06-02T10:26:45.725058+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"commented on gene: AHCY","entity_name":"AHCY","entity_type":"gene"},{"created":"2023-06-02T10:26:36.543987+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"AHCY","entity_type":"gene"},{"created":"2023-06-02T10:23:38.381221+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UNC45B as ready","entity_name":"UNC45B","entity_type":"gene"},{"created":"2023-06-02T10:23:38.371743+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: unc45b has been classified as Green List (High Evidence).","entity_name":"UNC45B","entity_type":"gene"},{"created":"2023-06-02T10:23:34.567548+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UNC45B as Green List (high evidence)","entity_name":"UNC45B","entity_type":"gene"},{"created":"2023-06-02T10:23:34.559537+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: unc45b has been classified as Green List (High Evidence).","entity_name":"UNC45B","entity_type":"gene"},{"created":"2023-06-02T10:23:05.565919+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SVIL as ready","entity_name":"SVIL","entity_type":"gene"},{"created":"2023-06-02T10:23:05.553540+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: svil has been classified as Amber List (Moderate Evidence).","entity_name":"SVIL","entity_type":"gene"},{"created":"2023-06-02T10:22:56.109883+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SVIL as Amber List (moderate evidence)","entity_name":"SVIL","entity_type":"gene"},{"created":"2023-06-02T10:22:56.101346+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.149","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: svil has been classified as Amber List (Moderate Evidence).","entity_name":"SVIL","entity_type":"gene"},{"created":"2023-06-02T10:21:53.354653+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MYL2 as ready","entity_name":"MYL2","entity_type":"gene"},{"created":"2023-06-02T10:21:53.343013+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myl2 has been classified as Green List (High Evidence).","entity_name":"MYL2","entity_type":"gene"},{"created":"2023-06-02T10:21:48.319406+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYL2 as Green List (high evidence)","entity_name":"MYL2","entity_type":"gene"},{"created":"2023-06-02T10:21:48.311569+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myl2 has been classified as Green List (High Evidence).","entity_name":"MYL2","entity_type":"gene"},{"created":"2023-06-02T10:21:03.058462+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KY as ready","entity_name":"KY","entity_type":"gene"},{"created":"2023-06-02T10:21:03.039052+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ky has been classified as Green List (High Evidence).","entity_name":"KY","entity_type":"gene"},{"created":"2023-06-02T10:20:59.220049+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KY as Green List (high evidence)","entity_name":"KY","entity_type":"gene"},{"created":"2023-06-02T10:20:59.204766+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.147","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ky has been classified as Green List (High Evidence).","entity_name":"KY","entity_type":"gene"},{"created":"2023-06-02T10:20:17.651492+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GFER as ready","entity_name":"GFER","entity_type":"gene"},{"created":"2023-06-02T10:20:17.643527+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2023-06-02T10:20:13.837577+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GFER as Green List (high evidence)","entity_name":"GFER","entity_type":"gene"},{"created":"2023-06-02T10:20:13.829181+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2023-06-02T10:19:39.924224+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FASTKD2 as ready","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2023-06-02T10:19:39.916333+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fastkd2 has been classified as Green List (High Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2023-06-02T10:19:33.017009+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FASTKD2 as Green List (high evidence)","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2023-06-02T10:19:33.004621+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fastkd2 has been classified as Green List (High Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2023-06-02T10:18:45.675205+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AIFM1 as ready","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-06-02T10:18:45.658464+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aifm1 has been classified as Green List (High Evidence).","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-06-02T10:18:38.864529+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AIFM1 as Green List (high evidence)","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-06-02T10:18:38.853335+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aifm1 has been classified as Green List (High Evidence).","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-06-02T10:18:23.544295+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-06-02T10:18:21.260377+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.172","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: AIFM1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2023-06-02T10:16:02.331201+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AGK as ready","entity_name":"AGK","entity_type":"gene"},{"created":"2023-06-02T10:16:02.319799+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: agk has been classified as Green List (High Evidence).","entity_name":"AGK","entity_type":"gene"},{"created":"2023-06-02T10:15:31.489758+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AGK as Green List (high evidence)","entity_name":"AGK","entity_type":"gene"},{"created":"2023-06-02T10:15:31.477710+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: agk has been classified as Green List (High Evidence).","entity_name":"AGK","entity_type":"gene"},{"created":"2023-06-02T10:15:06.285393+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AARS2 as ready","entity_name":"AARS2","entity_type":"gene"},{"created":"2023-06-02T10:15:06.274406+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aars2 has been classified as Green List (High Evidence).","entity_name":"AARS2","entity_type":"gene"},{"created":"2023-06-02T10:14:40.009135+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AARS2 as Green List (high evidence)","entity_name":"AARS2","entity_type":"gene"},{"created":"2023-06-02T10:14:39.999124+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aars2 has been classified as Green List (High Evidence).","entity_name":"AARS2","entity_type":"gene"},{"created":"2023-06-02T10:14:13.183145+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ABHD5 as ready","entity_name":"ABHD5","entity_type":"gene"},{"created":"2023-06-02T10:14:13.170831+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abhd5 has been classified as Green List (High Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2023-06-02T10:13:53.336822+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ABHD5 as Green List (high evidence)","entity_name":"ABHD5","entity_type":"gene"},{"created":"2023-06-02T10:13:53.328810+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abhd5 has been classified as Green List (High Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2023-06-02T10:13:08.327990+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABHD5 was added\ngene: ABHD5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD5 were set to 31883530\nPhenotypes for gene: ABHD5 were set to Dorfman-Chanarin disease MONDO:0010155\nReview for gene: ABHD5 was set to GREEN\ngene: ABHD5 was marked as current diagnostic\nAdded comment: A disorder of glycerolipid metabolism. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. \nSources: Expert list","entity_name":"ABHD5","entity_type":"gene"},{"created":"2023-06-02T09:42:41.194736+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.\r\n\r\nNeuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A\r\n\r\nPMID: 27640307 \r\n5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. \r\n\r\nFly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. \r\nThe loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.\r\n\r\nAR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.\r\n\r\nNeuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A\r\n\r\nPMID: 27640307 \r\n5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. \r\n\r\nFly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.\r\n\r\nAR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2023-06-02T09:42:29.643020+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.\r\n\r\nNeuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A\r\n\r\nPMID: 27640307 \r\n5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. \r\n\r\nFly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. \r\nThe loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for bothe LoF and GoF.\r\nTherefore the mode of pathogenicity is suggestive of dominant negative.\r\n\r\nAR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.\r\n\r\nNeuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A\r\n\r\nPMID: 27640307 \r\n5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. \r\n\r\nFly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. \r\nThe loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.\r\n\r\nAR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2023-06-02T09:42:05.368369+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.166","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27640307; Phenotypes: Harel-Yoon Syndrome (MIM#6173183); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2023-06-02T08:34:51.199794+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.174","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: MYL1: Changed publications: 30215711","entity_name":"MYL1","entity_type":"gene"},{"created":"2023-06-02T08:12:33.238109+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POT1 as ready","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-02T08:12:33.222803+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pot1 has been classified as Green List (High Evidence).","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-02T08:12:30.887844+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POT1 were changed from Tumour predisposition with variety of solid and haematological malignancies reported. to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-02T08:12:02.013088+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POT1 as Green List (high evidence)","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-02T08:12:02.004748+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pot1 has been classified as Green List (High Evidence).","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-02T08:11:34.798492+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cancer tag was added to gene: POT1.","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-02T08:11:11.267208+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary neoplastic syndrome, MONDO:0015356, POT1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-01T23:03:11.619489+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.230","user_name":"Edward Chew","item_type":"entity","text":"gene: POT1 was added\ngene: POT1 was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POT1 were set to (PMID:27528712; PMID: 29693246; PMID: 34769003; PMID: 36467798; PMID: 33216348; PMID: 24686849; PMID:24686846; PMID: 26403419; PMID: 32492864)\nPhenotypes for gene: POT1 were set to Tumour predisposition with variety of solid and haematological malignancies reported.\nPenetrance for gene: POT1 were set to Incomplete\nReview for gene: POT1 was set to GREEN\nAdded comment: CLL (PMID: 27528712, published 2016) identified 4 families with POT1 variants and CLL. \r\nAberrant splicing of intron 13 (chromosome 7 g.124481233C.T/c.1164-1G.A) confirmed by RT-PCR. Missense p.Tyr36Cys and p.Gln376Arg predicted to be pathogenic by in silico methods. p.Gln358SerfsTer13 predicted to cause premature truncation.\r\n\r\nHodgkin Lymphoma (PMID: 29693246, published 2018) identified 2 families with POT1 variants and Hodgkin lymphoma.\r\np.Asp224Asn in 4 carriers with Hodgkin lymphoma. Variant validated functionally.\r\np.Tryp26His in 2 carriers with Hodgkin lymphoma. Some functional validation performed.\r\n\r\nAML (PMID: 34769003, published 2021) identified p.Q199* in a 8yo with AML and monosomy 7. Unaffected father, de novo status of variant not confirmed. Some functional validation (but conflicting).\r\n\r\nMultiple myeloma (PMID: 36467798, published 2022) looked at inherited predisposition for multiple myeloma. Identified 4 families with POT1 variants who have myeloma, thyroid cancer, and AML. Functional validation not performed.\r\n\r\nMultiple haematological malignancies, cutaneous melanoma and solid cancers in a family from Queensland (PMID: 33216348, published 2020). The variant p.D224N has been reported and functionally validated by other authors.\r\n\r\nCutaneous melanoma (PMID: 24686849; PMID:24686846, published in same issue of journal in 2014) identified families with strong family history of melanoma. PMID: 24686849 identified 4 families with 4 different POT1 variants. PMID 24686846 identified 5 families with same founder p.Ser270Asn variant. Functional validation of pathogenicity performed in the 2 papers.\r\n\r\nLi-Fraumeni Like syndrome (PMID: 26403419 published 2015) identified 3 families with p.R117C variant and strong family history of Li-Fraumeni Like syndrome. Variant functionally validated.\r\n\r\nMedullary thyroid cancer (PMID: 32492864 published 2020) identified 1 family with p.V29L. The variant segregates with papillary thyroid cancer. Some functional validation performed. \nSources: Expert list","entity_name":"POT1","entity_type":"gene"},{"created":"2023-06-01T20:18:36.036312+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TRIP4 as ready","entity_name":"TRIP4","entity_type":"gene"},{"created":"2023-06-01T20:18:36.023818+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trip4 has been classified as Green List (High Evidence).","entity_name":"TRIP4","entity_type":"gene"},{"created":"2023-06-01T20:18:21.688661+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TRIP4 as Green List (high evidence)","entity_name":"TRIP4","entity_type":"gene"},{"created":"2023-06-01T20:18:21.678188+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trip4 has been classified as Green List (High Evidence).","entity_name":"TRIP4","entity_type":"gene"},{"created":"2023-06-01T20:17:28.949543+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TPM3 as ready","entity_name":"TPM3","entity_type":"gene"},{"created":"2023-06-01T20:17:28.937376+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tpm3 has been classified as Green List (High Evidence).","entity_name":"TPM3","entity_type":"gene"},{"created":"2023-06-01T20:16:04.526659+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TPM3 as Green List (high evidence)","entity_name":"TPM3","entity_type":"gene"},{"created":"2023-06-01T20:16:04.517858+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tpm3 has been classified as Green List (High Evidence).","entity_name":"TPM3","entity_type":"gene"},{"created":"2023-06-01T20:14:43.476658+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TPM2 as ready","entity_name":"TPM2","entity_type":"gene"},{"created":"2023-06-01T20:14:43.464874+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tpm2 has been classified as Green List (High Evidence).","entity_name":"TPM2","entity_type":"gene"},{"created":"2023-06-01T20:14:37.792947+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TPM2 as Green List (high evidence)","entity_name":"TPM2","entity_type":"gene"},{"created":"2023-06-01T20:14:37.784696+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tpm2 has been classified as Green List (High Evidence).","entity_name":"TPM2","entity_type":"gene"},{"created":"2023-06-01T20:13:42.350838+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TNNC2 as ready","entity_name":"TNNC2","entity_type":"gene"},{"created":"2023-06-01T20:13:42.323366+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnnc2 has been classified as Amber List (Moderate Evidence).","entity_name":"TNNC2","entity_type":"gene"},{"created":"2023-06-01T20:13:39.198663+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TNNC2 as Amber List (moderate evidence)","entity_name":"TNNC2","entity_type":"gene"},{"created":"2023-06-01T20:13:39.181269+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnnc2 has been classified as Amber List (Moderate Evidence).","entity_name":"TNNC2","entity_type":"gene"},{"created":"2023-06-01T20:11:06.786109+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: STAC3 as ready","entity_name":"STAC3","entity_type":"gene"},{"created":"2023-06-01T20:11:06.766785+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: stac3 has been classified as Green List (High Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2023-06-01T20:10:57.266358+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: STAC3 as Green List (high evidence)","entity_name":"STAC3","entity_type":"gene"},{"created":"2023-06-01T20:10:57.253236+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: stac3 has been classified as Green List (High Evidence).","entity_name":"STAC3","entity_type":"gene"},{"created":"2023-06-01T20:10:05.454220+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SPEG as ready","entity_name":"SPEG","entity_type":"gene"},{"created":"2023-06-01T20:10:05.442762+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: speg has been classified as Green List (High Evidence).","entity_name":"SPEG","entity_type":"gene"},{"created":"2023-06-01T20:10:00.659820+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SPEG as Green List (high evidence)","entity_name":"SPEG","entity_type":"gene"},{"created":"2023-06-01T20:10:00.645433+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: speg has been classified as Green List (High Evidence).","entity_name":"SPEG","entity_type":"gene"}]}