{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1014","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1012","results":[{"created":"2022-02-01T12:06:02.492741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3015","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGN as Green List (high evidence)","entity_name":"PIGN","entity_type":"gene"},{"created":"2022-02-01T12:06:02.478633+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3015","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pign has been classified as Green List (High Evidence).","entity_name":"PIGN","entity_type":"gene"},{"created":"2022-02-01T11:55:32.738908+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3014","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGG as ready","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:55:32.728245+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3014","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigg has been classified as Amber List (Moderate Evidence).","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:55:29.322147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3014","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia to Intellectual developmental disorder, autosomal recessive 53, MIM#616917","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:55:16.182149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3013","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGG were set to ","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:54:55.156818+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3012","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five patients from 3 unrelated families described with bi-allelic variants in this gene. \nSources: Expert Review; to: Five patients from 3 unrelated families described with bi-allelic variants in this gene.\r\n\r\nSome had brain abnormalities (cerebellar atrophy and thin CC): uncertain if this is a consistent/prominent feature of this disorder at present. Otherwise, clinical presentation is typically post-natal.\r\n\r\nSources: Expert Review","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:54:11.017909+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3012","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGG: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 53, MIM#616917","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:53:56.145981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3012","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGG: Changed rating: AMBER","entity_name":"PIGG","entity_type":"gene"},{"created":"2022-02-01T11:51:30.056279+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3012","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIBF1 as ready","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-02-01T11:51:30.042663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3012","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pibf1 has been classified as Green List (High Evidence).","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-02-01T11:49:26.514005+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3012","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIBF1 were set to ","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-02-01T11:49:12.202845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3011","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIBF1 as Green List (high evidence)","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-02-01T11:49:12.191498+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3011","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pibf1 has been classified as Green List (High Evidence).","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-02-01T11:48:41.578821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3010","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF21A as ready","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:48:41.567695+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3010","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf21a has been classified as Green List (High Evidence).","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:48:36.279001+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3010","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:48:21.307004+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3009","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF21A were set to ","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:48:08.274167+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3008","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:47:40.220053+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3007","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHF21A as Green List (high evidence)","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:47:40.208580+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3007","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf21a has been classified as Green List (High Evidence).","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:47:30.054393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Macrocephaly at birth.; to: Macrosomia at birth.","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:47:20.995840+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PHF21A: Macrocephaly at birth.","entity_name":"PHF21A","entity_type":"gene"},{"created":"2022-02-01T11:45:05.566605+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 28543917, 24931394","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:44:58.318399+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","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.\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.\r\n\r\nTypically presents post-natally.; 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.\r\n\r\nTypically presents post-natally. However, more severe presentations with skeletal abnormalities and congenital malformations reported in PMID 28543917 and 24931394.","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:44:16.198724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 28543917 24931394","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:43:57.390422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGM3: Changed rating: AMBER","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:43:46.129672+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGM3 as Amber List (moderate evidence)","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:43:46.118212+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Amber List (Moderate Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:43:34.849475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3005","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM3 as ready","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:43:34.836913+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3005","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Red List (Low Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:42:43.301118+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3005","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM3 were set to 28543917; 24931394","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:42:27.805471+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3004","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGM3 as Red List (low evidence)","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:42:27.794921+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3004","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Red List (Low Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:42:15.173012+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3003","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.\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.; 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.\r\n\r\nTypically presents post-natally.","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:42:01.472875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3003","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGM3: Changed rating: RED","entity_name":"PGM3","entity_type":"gene"},{"created":"2022-02-01T11:41:00.268571+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4477","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP1 as ready","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:41:00.256820+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4477","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap1 has been classified as Green List (High Evidence).","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:40:56.443928+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4477","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP1 were changed from  to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:40:30.123419+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4476","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP1 were set to ","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:39:55.770667+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4475","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:39:21.537367+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4474","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:38:21.668260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10817","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP1 as ready","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:38:21.658151+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap1 has been classified as Green List (High Evidence).","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:38:13.982731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10817","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP1 were changed from  to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:37:54.811761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10816","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP1 were set to ","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:37:36.176656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10815","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:35:25.337338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10814","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-02-01T11:30:42.248440+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3003","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR26 as ready","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T11:30:42.238293+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3003","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr26 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T11:30:31.719066+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3003","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR26 were changed from Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features to Skraban-Deardorff syndrome, MIM#617616; Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T11:29:39.436809+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3002","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR26 were set to ","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T11:29:23.914106+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3001","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: WDR26 as Amber List (moderate evidence)","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T11:29:23.909373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3001","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Craniofacial features to subtle for US, brain abnormalities are not always present and also subtle.","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T11:29:23.877111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3001","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr26 has been classified as Amber List (Moderate Evidence).","entity_name":"WDR26","entity_type":"gene"},{"created":"2022-02-01T10:51:09.516851+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3000","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR34 as ready","entity_name":"WDR34","entity_type":"gene"},{"created":"2022-02-01T10:51:09.505424+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3000","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr34 has been classified as Green List (High Evidence).","entity_name":"WDR34","entity_type":"gene"},{"created":"2022-02-01T10:50:53.954048+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3000","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR34 were changed from SHORT-RIB POLYDACTYLY SYNDROME TYPE III; SEVERE ASPHYXIATING THORACIC DYSPLASIA to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633","entity_name":"WDR34","entity_type":"gene"},{"created":"2022-02-01T10:50:42.688873+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2999","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR34 were set to ","entity_name":"WDR34","entity_type":"gene"},{"created":"2022-02-01T10:49:07.748666+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2998","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR35 as ready","entity_name":"WDR35","entity_type":"gene"},{"created":"2022-02-01T10:49:07.713614+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2998","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr35 has been classified as Green List (High Evidence).","entity_name":"WDR35","entity_type":"gene"},{"created":"2022-02-01T10:48:52.704649+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2998","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR35 were set to ","entity_name":"WDR35","entity_type":"gene"},{"created":"2022-02-01T10:48:36.768183+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2997","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR35 were changed from CRANIOECTODERMAL DYSPLASIA 2; SHORT RIB-POLYDACTYLY SYNDROME, TYPE V to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569","entity_name":"WDR35","entity_type":"gene"},{"created":"2022-02-01T10:48:01.537358+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2996","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR60 as ready","entity_name":"WDR60","entity_type":"gene"},{"created":"2022-02-01T10:48:01.515284+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2996","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr60 has been classified as Green List (High Evidence).","entity_name":"WDR60","entity_type":"gene"},{"created":"2022-02-01T10:47:53.971608+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2996","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR60 were set to ","entity_name":"WDR60","entity_type":"gene"},{"created":"2022-02-01T10:47:29.903589+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2995","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR60 were changed from SHORT-RIB POLYDACTYLY; JEUNE SYNDROMES to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503","entity_name":"WDR60","entity_type":"gene"},{"created":"2022-02-01T10:44:22.578234+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2994","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR62 as ready","entity_name":"WDR62","entity_type":"gene"},{"created":"2022-02-01T10:44:22.566301+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2994","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr62 has been classified as Green List (High Evidence).","entity_name":"WDR62","entity_type":"gene"},{"created":"2022-02-01T10:43:52.346292+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2994","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR62 were changed from MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435","entity_name":"WDR62","entity_type":"gene"},{"created":"2022-01-31T21:56:54.444207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2993","user_name":"Krithika Murali","item_type":"entity","text":"gene: PDE6D was added\ngene: PDE6D was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE6D were set to 30423442; 24166846\nPhenotypes for gene: PDE6D were set to Joubert syndrome 22 - MIM#615665\nReview for gene: PDE6D was set to GREEN\nAdded comment: Biallelic variants associated with Joubert syndrome identified in 2 families. Antenatal detection possible.  \r\n\r\n30423442 Megarbane et al 2018\r\nReport homozygous truncating PDE6D variant in a male infant with post-axial polydactyly noted at birth on all extremities. Brain MRI at 6 months  of age showed cerebellar vermis agenesis, hypoplastic corpus callosum, cortical atrophy of the temporal lobes and molar tooth sign.\r\n\r\nPMID 24166846 Thomas et al 2014 report a consanguineous family with three affected and 2 healthy sibs. Features noted in both liveborn children:\r\n- 1/2 IUGR\r\n- 1/2 facial dysmorphism\r\n- 2/2 postaxial polydactyly \r\n- 1/2 syndactyly\r\n- 1/2 renal hypoplasia\r\n- 2/2 microphthalmia\r\n- 1/2 supportive MRI-B features\r\n- 1/2 coloboma\r\n\r\n3rd sibling is a male fetus terminated at 14 weeks gestation following findings of brain anomalies and polydactyly.\r\n\r\nSupportive animal models \nSources: Literature","entity_name":"PDE6D","entity_type":"gene"},{"created":"2022-01-31T21:39:38.134526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2993","user_name":"Krithika Murali","item_type":"entity","text":"gene: NPM1 was added\ngene: NPM1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NPM1 were set to 31570891\nPhenotypes for gene: NPM1 were set to Dyskeratosis congenita\nReview for gene: NPM1 was set to AMBER\nAdded comment: Heterozygous variants identified in 2 patients with dyskeratosis congenita (DKC). \r\n\r\nx1 patient with NPM1 missense mutation presented with severe growth defects at birth, thumb abnormalities and thrombocytopenia.\r\n\r\nx1 patient with in-frame NPM1 deletion presented with skin pigmentation abnormalities, nail dystrophy, microcephaly, developmental delay, short stature, skeletal abnormalities in the\r\nradius and bone marrow failure by age 6.  \r\n\r\nSome of these features may be amenable to antenatal detection. \nSources: Literature","entity_name":"NPM1","entity_type":"gene"},{"created":"2022-01-31T20:26:37.195581+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2993","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP1 as ready","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:26:37.184894+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2993","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap1 has been classified as Green List (High Evidence).","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:26:32.983990+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2993","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:26:16.767091+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2992","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP1 were set to ","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:25:57.986748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2991","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGAP1 as Green List (high evidence)","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:25:57.977090+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2991","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgap1 has been classified as Green List (High Evidence).","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:25:40.156222+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2990","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP1","entity_type":"gene"},{"created":"2022-01-31T20:22:20.150635+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2990","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PET100 as ready","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:22:20.139106+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2990","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pet100 has been classified as Green List (High Evidence).","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:22:16.247054+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2990","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PET100 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:22:02.906222+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2989","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PET100 were set to ","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:21:38.394399+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2988","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PET100 as Green List (high evidence)","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:21:38.383369+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2988","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pet100 has been classified as Green List (High Evidence).","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:21:23.213872+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2987","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Founder effect in 6 Australian families of Lebanese origin (M1?) reported originally; functional data. Second family with different variants also reported; and another 2 Lebanese families with same founder variant.; to: Founder effect in 6 Australian families of Lebanese origin (M1?) reported originally; functional data. Second family with different variants also reported; and another 2 Lebanese families with same founder variant.\r\n\r\nIUGR is a feature.","entity_name":"PET100","entity_type":"gene"},{"created":"2022-01-31T20:19:20.655957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2987","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDSS1 as ready","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T20:19:20.646124+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2987","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Red List (Low Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T20:19:11.763103+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2987","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDSS1 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 2 to Coenzyme Q10 deficiency, primary, 2 MIM#614651","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T20:18:56.160506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2986","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDSS1 were set to ","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T20:18:43.768068+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2985","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDSS1 as Red List (low evidence)","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T20:18:43.758165+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2985","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdss1 has been classified as Red List (Low Evidence).","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T20:18:30.753589+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2984","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDSS1","entity_type":"gene"},{"created":"2022-01-31T18:59:38.537938+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2984","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE10A as ready","entity_name":"PDE10A","entity_type":"gene"},{"created":"2022-01-31T18:59:38.520603+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2984","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde10a has been classified as Red List (Low Evidence).","entity_name":"PDE10A","entity_type":"gene"},{"created":"2022-01-31T18:59:34.497434+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2984","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE10A were changed from Childhood-Onset Chorea with Bilateral Striatal Lesions to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922","entity_name":"PDE10A","entity_type":"gene"},{"created":"2022-01-31T18:58:54.498667+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2983","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE10A were set to ","entity_name":"PDE10A","entity_type":"gene"},{"created":"2022-01-31T18:58:44.137983+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2982","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE10A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PDE10A","entity_type":"gene"},{"created":"2022-01-31T18:57:26.381380+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2981","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE10A as Red List (low evidence)","entity_name":"PDE10A","entity_type":"gene"},{"created":"2022-01-31T18:57:26.370582+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2981","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde10a has been classified as Red List (Low Evidence).","entity_name":"PDE10A","entity_type":"gene"}]}