{"count":220361,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1471","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1469","results":[{"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"},{"created":"2020-12-20T13:31:44.240851+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGAP3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:31:29.694653+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGAP3: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:31:07.106953+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGAP3: Changed rating: GREEN","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:31:00.436830+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP3: Rating: ; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716; Mode of inheritance: None","entity_name":"PGAP3","entity_type":"gene"},{"created":"2020-12-20T13:26:58.917553+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP2 as ready","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:26:58.908935+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap2 has been classified as Amber List (Moderate Evidence).","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:26:54.198001+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGAP2 as Amber List (moderate evidence)","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:26:54.189797+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap2 has been classified as Amber List (Moderate Evidence).","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:22:53.279619+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGAP2 was added\ngene: PGAP2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGAP2 were set to 23561846; 23561847; 31805394; 29119105; 27871432\nPhenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628\nReview for gene: PGAP2 was set to AMBER\nAdded comment: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.\r\n\r\nAlthough HPMRS disorders are frequently associated with seizures, this seems a less frequently reported feature associated with variants in this gene. \nSources: Expert Review","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:19:06.368935+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":"Marked gene: PGAP2 as ready","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:19:06.360361+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":"Gene: pgap2 has been classified as Green List (High Evidence).","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:18:43.722217+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":"Phenotypes for gene: PGAP2 were changed from  to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:18:13.564511+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3308","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP2 were set to ","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:17:39.439807+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3307","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:17:04.316955+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3306","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:14:38.592095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5715","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP2 as ready","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:14:38.580422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5715","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap2 has been classified as Green List (High Evidence).","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:14:30.627039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5715","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP2 were changed from  to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:14:10.550548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5714","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP2 were set to ","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:13:51.063183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5713","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:13:30.968431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5712","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:13:07.894141+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207 to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:12:31.356270+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGAP2: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:11:39.803824+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP2 as ready","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:11:39.792546+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap2 has been classified as Green List (High Evidence).","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:11:37.094238+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP2 were changed from  to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:11:04.825933+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP2 were set to ","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:10:36.633574+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-20T13:10:04.518898+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP2","entity_type":"gene"},{"created":"2020-12-19T22:00:51.315070+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGV as ready","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T22:00:51.303086+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigv has been classified as Green List (High Evidence).","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T22:00:46.428967+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGV as Green List (high evidence)","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T22:00:46.421000+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigv has been classified as Green List (High Evidence).","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T22:00:15.884943+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIGV was added\ngene: PIGV was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGV were set to 20802478; 22315194; 28817240; 24129430\nPhenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398\nReview for gene: PIGV was set to GREEN\nAdded comment: Bi-allelic variants in this gene are associated with intellectual disability, seizures, hypotonia, and hyperphosphatasia. Other features include facial dysmorphism, variable degrees of brachytelephalangy and congenital anomalies. \nSources: Expert Review","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:58:09.793738+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3306","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGV as ready","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:58:09.784040+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3306","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigv has been classified as Green List (High Evidence).","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:58:05.903985+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3306","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGV were changed from  to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:57:32.570771+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3305","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGV were set to ","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:57:01.845797+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3304","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:56:21.743377+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3303","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:55:36.653761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5712","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGV as ready","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:55:36.640701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5712","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigv has been classified as Green List (High Evidence).","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:55:28.307969+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5712","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGV were changed from  to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:54:32.548400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5711","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGV were set to ","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:54:06.100913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5710","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:53:45.174620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5709","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:52:32.033456+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGV: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:52:21.490911+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGV as ready","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:52:21.482341+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigv has been classified as Green List (High Evidence).","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:52:17.646460+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300 to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:51:30.195516+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGV were changed from  to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:51:08.149617+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGV were set to ","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:50:39.190096+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:50:07.741914+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGV","entity_type":"gene"},{"created":"2020-12-19T21:45:00.524347+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3303","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:44:22.671083+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3302","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:44:03.990802+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.970","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:43:25.596318+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:37:09.039037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5709","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:36:42.512027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5708","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:36:02.720487+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGT as ready","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:36:02.705328+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigt has been classified as Green List (High Evidence).","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-12-19T21:35:58.865726+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM#\t615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM#\t615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"}]}