{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=659","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=657","results":[{"created":"2022-12-23T13:14:47.809318+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1601","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLH as Red List (low evidence)","entity_name":"POLH","entity_type":"gene"},{"created":"2022-12-23T13:14:47.797752+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polh has been classified as Red List (Low Evidence).","entity_name":"POLH","entity_type":"gene"},{"created":"2022-12-23T13:14:36.981793+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1600","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLH","entity_type":"gene"},{"created":"2022-12-23T13:11:11.748798+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:11:11.736869+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Red List (Low Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:11:07.465430+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1600","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG were changed from POLG-Related Ataxia Neuropathy Spectrum Disorders to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:10:55.003802+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1599","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG were set to ","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:10:39.603476+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1598","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:10:29.483624+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1597","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLG as Red List (low evidence)","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:10:29.471109+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Red List (Low Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:10:17.930124+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1596","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459, Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450, Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:08:36.992369+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1596","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30451971, PMID: 21880868; Phenotypes: seizures, dev delay, hypotonia, liver failure, neurodegeneration, gut pseudo obstruction, peripheral neuropathy, ophthalmoplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2022-12-23T13:08:19.135660+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1596","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNKP as ready","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T13:08:19.109001+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkp has been classified as Red List (Low Evidence).","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T13:08:06.340051+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1596","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNKP were changed from Microcephaly - seizures - developmental delay to Ataxia-oculomotor apraxia 4, MIM#616267; Microcephaly, seizures, and developmental delay, MIM#613402","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T13:07:39.967907+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1595","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNKP were set to ","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T13:07:16.824999+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1594","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNKP as Red List (low evidence)","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T13:07:16.813169+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1594","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkp has been classified as Red List (Low Evidence).","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T12:49:59.857999+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1593","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34769443, PMID: 32888189; Phenotypes: neonatal seizures, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPO","entity_type":"gene"},{"created":"2022-12-23T12:46:18.960602+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1593","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27125728, PMID: 27066567, PMID: 27232581; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNKP","entity_type":"gene"},{"created":"2022-12-23T11:01:54.172908+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1593","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMT1 as ready","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-12-23T11:01:54.159282+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt1 has been classified as Red List (Low Evidence).","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-12-23T11:01:50.209142+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1593","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-12-23T11:01:36.696204+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1592","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POMT1 as Red List (low evidence)","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-12-23T11:01:36.682238+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt1 has been classified as Red List (Low Evidence).","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-12-23T11:01:25.810082+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1591","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-12-23T10:59:09.886239+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1591","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PQBP1 as ready","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-12-23T10:59:09.874411+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pqbp1 has been classified as Red List (Low Evidence).","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-12-23T10:58:47.726061+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1591","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PQBP1 were changed from Mental retardation to Renpenning syndrome, MIM#309500","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-12-23T10:58:34.944437+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1590","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PQBP1 as Red List (low evidence)","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-12-23T10:58:34.931113+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1590","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pqbp1 has been classified as Red List (Low Evidence).","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-12-23T10:58:21.960656+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1589","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PQBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renpenning syndrome, MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-12-23T10:56:44.078231+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1589","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNKD as ready","entity_name":"PNKD","entity_type":"gene"},{"created":"2022-12-23T10:56:44.065745+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkd has been classified as Red List (Low Evidence).","entity_name":"PNKD","entity_type":"gene"},{"created":"2022-12-23T10:56:36.944465+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1589","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNKD were changed from Paroxysmal nonkinesiogenic dyskinesia to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800","entity_name":"PNKD","entity_type":"gene"},{"created":"2022-12-23T10:56:24.491398+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1588","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNKD as Red List (low evidence)","entity_name":"PNKD","entity_type":"gene"},{"created":"2022-12-23T10:56:24.478913+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkd has been classified as Red List (Low Evidence).","entity_name":"PNKD","entity_type":"gene"},{"created":"2022-12-23T10:56:13.724160+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1587","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PNKD","entity_type":"gene"},{"created":"2022-12-23T10:53:50.779241+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1587","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMP22 as ready","entity_name":"PMP22","entity_type":"gene"},{"created":"2022-12-23T10:53:50.761035+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1587","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmp22 has been classified as Red List (Low Evidence).","entity_name":"PMP22","entity_type":"gene"},{"created":"2022-12-23T10:53:39.791054+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1587","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800","entity_name":"PMP22","entity_type":"gene"},{"created":"2022-12-23T10:53:25.986468+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1586","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMP22 as Red List (low evidence)","entity_name":"PMP22","entity_type":"gene"},{"created":"2022-12-23T10:53:25.974170+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1586","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmp22 has been classified as Red List (Low Evidence).","entity_name":"PMP22","entity_type":"gene"},{"created":"2022-12-23T10:53:14.803685+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1585","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMP22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1A, MIM# 118220, Charcot-Marie-Tooth disease, type 1E, MIM# 118300, Dejerine-Sottas disease, MIM# 145900, Neuropathy, recurrent, with pressure palsies 162500, Roussy-Levy syndrome 180800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PMP22","entity_type":"gene"},{"created":"2022-12-23T10:51:21.162782+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:51:21.149142+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Amber List (Moderate Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:51:13.804500+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1585","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia to Congenital disorder of glycosylation, type Ia, MIM# 212065","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:51:00.987297+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1584","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PMM2 were set to ","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:50:50.128655+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1583","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMM2 as Amber List (moderate evidence)","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:50:50.103254+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1583","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Amber List (Moderate Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:49:57.981846+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PMM2.\nTag metabolic tag was added to gene: PMM2.","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:49:44.770996+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PMM2: Changed rating: AMBER","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:49:31.505095+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30740725, 31636082; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-12-23T10:42:06.865767+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLPBP as ready","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-12-23T10:42:06.850065+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-12-23T10:42:01.042698+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1582","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to ","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-12-23T10:41:48.415107+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1581","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PLPBP.\nTag metabolic tag was added to gene: PLPBP.","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-12-23T10:41:30.642349+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1581","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM#617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2022-12-23T10:38:58.080085+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1581","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-12-23T10:38:58.066889+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Red List (Low Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-12-23T10:38:54.770813+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1581","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-12-23T10:38:13.654911+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1580","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLP1 as Red List (low evidence)","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-12-23T10:38:13.641813+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Red List (Low Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-12-23T10:38:02.058895+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1579","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PLP1","entity_type":"gene"},{"created":"2022-12-23T10:34:40.660900+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1579","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLOD1 as ready","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-12-23T10:34:40.647580+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plod1 has been classified as Red List (Low Evidence).","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-12-23T10:34:20.886474+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos syndrome, kyphoscoliotic type to Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-12-23T10:33:28.161473+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1578","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLOD1 as Red List (low evidence)","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-12-23T10:33:28.147442+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plod1 has been classified as Red List (Low Evidence).","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-12-23T10:33:08.614520+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1577","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLOD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD1","entity_type":"gene"},{"created":"2022-12-23T10:30:49.567700+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1577","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLG as ready","entity_name":"PLG","entity_type":"gene"},{"created":"2022-12-23T10:30:49.555165+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1577","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plg has been classified as Green List (High Evidence).","entity_name":"PLG","entity_type":"gene"},{"created":"2022-12-23T10:15:12.573434+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLG were changed from Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090 to Plasminogen deficiency, type I, MIM# 217090","entity_name":"PLG","entity_type":"gene"},{"created":"2022-12-23T10:10:05.620613+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1576","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PLG.\nTag haematological tag was added to gene: PLG.","entity_name":"PLG","entity_type":"gene"},{"created":"2022-12-23T10:09:50.692773+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1576","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29321155; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLG","entity_type":"gene"},{"created":"2022-12-23T09:57:24.959351+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1576","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEC as ready","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:57:24.946856+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plec has been classified as Red List (Low Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:57:18.780747+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1576","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEC were changed from Muscular dystrophy; Epidermolysis bullosa simplex to Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:57:05.996191+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1575","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLEC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:56:56.686410+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1574","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLEC as Red List (low evidence)","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:56:56.671205+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1574","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plec has been classified as Red List (Low Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:56:42.673920+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1573","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLEC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138, Epidermolysis bullosa simplex, Ogna type MIM#131950, Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PLEC","entity_type":"gene"},{"created":"2022-12-23T09:50:48.015679+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1573","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCE1 as ready","entity_name":"PLCE1","entity_type":"gene"},{"created":"2022-12-23T09:50:47.996280+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1573","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plce1 has been classified as Red List (Low Evidence).","entity_name":"PLCE1","entity_type":"gene"},{"created":"2022-12-23T09:50:43.861276+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCE1 were changed from Nephrotic syndrome to Nephrotic syndrome, type 3, MIM# 610725","entity_name":"PLCE1","entity_type":"gene"},{"created":"2022-12-23T09:50:31.042131+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1572","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCE1 as Red List (low evidence)","entity_name":"PLCE1","entity_type":"gene"},{"created":"2022-12-23T09:50:31.030921+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plce1 has been classified as Red List (Low Evidence).","entity_name":"PLCE1","entity_type":"gene"},{"created":"2022-12-23T09:50:18.756380+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1571","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLCE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLCE1","entity_type":"gene"},{"created":"2022-12-23T09:48:24.901077+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1571","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G6 as ready","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-12-23T09:48:24.886639+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Red List (Low Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-12-23T09:48:20.559996+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-12-23T09:46:51.556761+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1570","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLA2G6 as Red List (low evidence)","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-12-23T09:46:51.543798+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Red List (Low Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-12-23T09:46:39.773252+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1569","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217, Parkinson disease 14, autosomal recessive MIM#612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-12-23T09:44:44.745212+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1569","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKLR as ready","entity_name":"PKLR","entity_type":"gene"},{"created":"2022-12-23T09:44:44.720798+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1569","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pklr has been classified as Green List (High Evidence).","entity_name":"PKLR","entity_type":"gene"},{"created":"2022-12-23T09:44:40.705607+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1569","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKLR were set to ","entity_name":"PKLR","entity_type":"gene"},{"created":"2022-12-23T09:44:03.859229+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1568","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PKLR: Changed publications: 32702739","entity_name":"PKLR","entity_type":"gene"},{"created":"2022-12-23T09:43:57.847015+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1568","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ranging from fetal hydrops and symptomatic anemia requiring lifelong transfusions to fully compensated hemolysis.; to: Established gene-disease association.\r\n\r\nSeverity ranges from fetal hydrops and symptomatic anaemia requiring lifelong transfusions to fully compensated haemolysis.\r\n\r\nTreatment: Mitapivat. Red cell transfusions.\r\n\r\nFor review.","entity_name":"PKLR","entity_type":"gene"},{"created":"2022-12-23T09:43:00.558580+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1568","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PKLR: Changed phenotypes: Pyruvate Kinase deficiency, MIM# 266200; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKLR","entity_type":"gene"}]}