{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1470","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1468","results":[{"created":"2020-12-20T17:23:09.384704+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPI as Green List (high evidence)","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:23:09.377426+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Green List (High Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:20:50.273782+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPI was added\ngene: MPI was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257\nReview for gene: MPI was set to GREEN\nAdded comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Both bleeding and thrombosis reported. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.\r\n\r\nWell established gene-disease association, numerous families reported. \nSources: Expert Review","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:19:12.552146+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPI as ready","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:19:12.537476+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Green List (High Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:17:16.821242+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPI as Green List (high evidence)","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:17:16.810855+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Green List (High Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:16:46.323524+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPI was added\ngene: MPI was added to Congenital Diarrhoea. Sources: Expert Review\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257\nReview for gene: MPI was set to GREEN\nAdded comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.\r\n\r\nWell established gene-disease association, numerous families reported. \nSources: Expert Review","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:13:54.927532+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPI as ready","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:13:54.917405+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Red List (Low Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:12:27.586761+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPI were changed from  to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:11:43.527227+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3319","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPI were set to ","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:11:13.093319+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3318","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:10:42.664541+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3317","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPI as Red List (low evidence)","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:10:42.652748+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Red List (Low Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:09:51.033652+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3316","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPI: Rating: RED; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:08:54.256670+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5724","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPI as ready","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:08:54.249117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5724","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Green List (High Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:08:42.108876+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5724","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPI were changed from  to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:08:24.671910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5723","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPI were set to ","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:08:00.897872+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5722","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:07:42.492070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5721","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:06:04.569294+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MPI: Changed phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:05:46.601260+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPI as ready","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:05:46.593359+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Green List (High Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:05:25.269290+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPI were changed from  to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:04:21.386056+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPI were set to ","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:03:44.063868+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPI was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:03:24.107741+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T17:02:52.825207+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-12-20T16:56:32.711249+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARGE1 as ready","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-12-20T16:56:32.701500+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Green List (High Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-12-20T16:56:29.275822+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARGE1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-12-20T16:56:00.726775+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-12-20T16:55:31.076922+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-12-20T16:54:50.174229+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISPD as ready","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-12-20T16:54:50.165966+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ispd has been classified as Green List (High Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-12-20T16:54:47.741820+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISPD were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-12-20T16:54:18.676897+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-12-20T16:53:49.012059+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-12-20T15:07:18.882085+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMGNT2 as ready","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-12-20T15:07:18.871339+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt2 has been classified as Green List (High Evidence).","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-12-20T15:07:15.672681+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMGNT2 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-12-20T15:06:28.641825+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-12-20T15:05:59.104977+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-12-20T15:05:09.010903+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMGNT1 as ready","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-12-20T15:05:09.001008+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt1 has been classified as Green List (High Evidence).","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-12-20T15:05:05.637673+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMGNT1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-12-20T15:04:37.148171+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-12-20T15:04:07.412807+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-12-20T15:01:32.635102+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM3 as ready","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T15:01:32.622909+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Green List (High Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T15:01:24.050212+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3316","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM3 were changed from  to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T15:00:51.026822+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3315","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM3 were set to ","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T15:00:19.105819+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3314","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T14:59:46.276143+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T14:56:30.099104+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM3 as ready","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T14:56:30.090439+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Green List (High Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T14:56:26.952896+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM3 were changed from  to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T14:00:26.935397+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM3 were set to ","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:57:21.226342+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:56:51.822204+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:56:02.428692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5721","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM3 as ready","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:56:02.416743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5721","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Green List (High Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:55:54.555058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5721","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM3 were changed from  to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:55:36.649009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5720","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM3 were set to ","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:55:15.471234+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5719","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:54:50.562650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5718","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.\r\n\r\nBi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.\r\n\r\nMore than 10 unrelated families reported.","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:54:35.870726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5718","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:54:28.115716+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM3 were changed from Immunodeficiency 23, MIM# 615816 to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:53:54.629388+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGM3: Changed phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:52:58.337921+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM3 as ready","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:52:58.326631+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Green List (High Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:52:55.839142+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM3 were changed from  to Immunodeficiency 23, MIM# 615816","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:52:27.466071+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM3 were set to ","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:51:59.603855+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:51:30.823302+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGM3","entity_type":"gene"},{"created":"2020-12-20T13:46:38.609761+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP3 as ready","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:46:38.601208+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap3 has been classified as Green List (High Evidence).","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:46:32.841030+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP3 were changed from  to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:38:55.930995+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:38:26.132466+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3311","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP3 were set to ","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:38:13.975367+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP3 as ready","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:38:13.963264+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap3 has been classified as Green List (High Evidence).","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:38:09.652736+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGAP3 as Green List (high evidence)","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:38:09.640727+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap3 has been classified as Green List (High Evidence).","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:37:43.416890+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3310","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:37:24.861356+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGAP3 was added\ngene: PGAP3 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754\nPhenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318\nReview for gene: PGAP3 was set to GREEN\nAdded comment: Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported. \nSources: Expert Review","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:37:03.833443+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3309","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:35:39.604696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5718","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP3 as ready","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:35:39.594245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5718","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap3 has been classified as Green List (High Evidence).","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:35:32.294328+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5718","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP3 were changed from  to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:35:10.488431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5717","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP3 were set to ","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:34:49.298847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5716","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:34:30.174630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5715","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:33:16.774015+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP3 as ready","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:33:16.765329+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap3 has been classified as Green List (High Evidence).","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:33:11.628851+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP3 were changed from  to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:32:44.130196+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP3 were set to ","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:32:14.738259+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"}]}