{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=955","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=953","results":[{"created":"2022-03-02T20:50:48.456395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex6 has been classified as Green List (High Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-03-02T20:50:43.986474+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4604","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX6 were changed from ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-03-02T20:50:30.767901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4603","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX6 were set to ","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-03-02T20:46:49.363964+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP2 as ready","entity_name":"PGAP2","entity_type":"gene"},{"created":"2022-03-02T20:46:49.354218+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4602","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":"2022-03-02T20:46:42.965977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4602","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP2 were changed from INTELLECTUAL DISABILITY to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628","entity_name":"PGAP2","entity_type":"gene"},{"created":"2022-03-02T20:46:16.365957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4601","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP2 were set to ","entity_name":"PGAP2","entity_type":"gene"},{"created":"2022-03-02T20:46:00.708736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4600","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 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.; to: 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\nMicrocephaly is a feature.","entity_name":"PGAP2","entity_type":"gene"},{"created":"2022-03-02T20:43:46.353928+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGAP3 as ready","entity_name":"PGAP3","entity_type":"gene"},{"created":"2022-03-02T20:43:46.345058+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4600","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":"2022-03-02T20:43:39.114275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4600","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGAP3 were changed from HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318","entity_name":"PGAP3","entity_type":"gene"},{"created":"2022-03-02T20:43:23.957718+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4599","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGAP3 were set to ","entity_name":"PGAP3","entity_type":"gene"},{"created":"2022-03-02T20:43:08.847977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4598","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 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.; to: 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.\r\n\r\nMicrocephaly, CC abnormalities reported.","entity_name":"PGAP3","entity_type":"gene"},{"created":"2022-03-02T20:39:57.236521+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4598","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM1 as ready","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:39:57.227086+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4598","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm1 has been classified as Green List (High Evidence).","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:39:53.425860+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4598","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGM1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT to Congenital disorder of glycosylation, type It 614921","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:39:38.004260+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4597","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGM1 were set to ","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:39:21.447482+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4596","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism; to: Over 50 individuals reported. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:39:08.554139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4596","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGM1: Changed publications: 24499211, 33342467","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:38:25.454143+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4596","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PGM1: The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism","entity_name":"PGM1","entity_type":"gene"},{"created":"2022-03-02T20:32:02.555700+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4596","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF8 as ready","entity_name":"PHF8","entity_type":"gene"},{"created":"2022-03-02T20:32:02.541572+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf8 has been classified as Green List (High Evidence).","entity_name":"PHF8","entity_type":"gene"},{"created":"2022-03-02T20:31:58.230302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4596","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHF8 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE to Intellectual developmental disorder, X-linked, syndromic, Siderius type, MIM# 300263","entity_name":"PHF8","entity_type":"gene"},{"created":"2022-03-02T20:31:45.559642+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4595","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHF8 were set to ","entity_name":"PHF8","entity_type":"gene"},{"created":"2022-03-02T20:31:03.424464+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4594","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PHF8: Cleft lip/palate is a feature.","entity_name":"PHF8","entity_type":"gene"},{"created":"2022-03-02T20:30:42.316009+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4594","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PHF8: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, Siderius type, MIM# 300263","entity_name":"PHF8","entity_type":"gene"},{"created":"2022-03-02T19:35:58.520539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4594","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHGDH as ready","entity_name":"PHGDH","entity_type":"gene"},{"created":"2022-03-02T19:35:58.510960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4594","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phgdh has been classified as Green List (High Evidence).","entity_name":"PHGDH","entity_type":"gene"},{"created":"2022-03-02T19:35:54.942373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4594","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHGDH were changed from PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; NEU-LAXOVA SYNDROME to Neu-Laxova syndrome 1, MIM# 256520","entity_name":"PHGDH","entity_type":"gene"},{"created":"2022-03-02T19:35:42.062040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4593","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHGDH were set to ","entity_name":"PHGDH","entity_type":"gene"},{"created":"2022-03-02T19:35:08.901739+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHIP as ready","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:35:08.890304+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phip has been classified as Red List (Low Evidence).","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:35:05.233301+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHIP were changed from Developmental delay, ID, obesity and dysmorphic features to Chung-Jansen syndrome, MIM#617991","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:34:52.280664+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4591","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHIP were set to ","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:34:38.634351+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4590","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PHIP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:34:29.258629+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4589","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHIP as Red List (low evidence)","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:34:29.248534+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phip has been classified as Red List (Low Evidence).","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:34:17.325717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4588","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. \nSources: Expert list; to: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. ID, dysmorphism and obesity are the key features. Clinical presentation is typically post-natal.\r\nSources: Expert list","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:33:38.913368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4588","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PHIP: Changed rating: RED","entity_name":"PHIP","entity_type":"gene"},{"created":"2022-03-02T19:31:49.714299+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4588","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIEZO2 as ready","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:31:49.701024+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piezo2 has been classified as Green List (High Evidence).","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:31:45.996514+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4588","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIEZO2 were changed from Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:31:30.449502+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4587","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIEZO2 were set to ","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:31:13.967404+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4586","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:31:00.320457+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4585","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Gene is associated with several phenotypes. The other two DA phenotypes do not have ID as a feature. Mild ID is part of the phenotype of some individuals with DA type 3. ID is part of the phenotype of Marden-Walker, however only one individual with PIEZO2 variant has been reported to date.; to: Gene is associated with several phenotypes, contractures are a key feature.","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:30:36.002194+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4585","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIEZO2: Changed rating: GREEN","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2022-03-02T19:30:08.703520+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-03-02T19:30:08.692383+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-03-02T19:30:04.962975+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4585","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-03-02T19:29:52.312548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4584","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGA were set to ","entity_name":"PIGA","entity_type":"gene"},{"created":"2022-03-02T19:29:14.003196+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4583","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGL as ready","entity_name":"PIGL","entity_type":"gene"},{"created":"2022-03-02T19:29:13.991005+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4583","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigl has been classified as Green List (High Evidence).","entity_name":"PIGL","entity_type":"gene"},{"created":"2022-03-02T19:29:10.074169+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4583","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGL were changed from ZUNICH NEUROECTODERMAL SYNDROME to CHIME syndrome, MIM# 280000, MONDO:0010221","entity_name":"PIGL","entity_type":"gene"},{"created":"2022-03-02T19:28:56.535977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4582","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGL were set to ","entity_name":"PIGL","entity_type":"gene"},{"created":"2022-03-02T19:28:43.475399+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4581","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PIGL.","entity_name":"PIGL","entity_type":"gene"},{"created":"2022-03-02T19:28:02.643346+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4581","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGO as ready","entity_name":"PIGO","entity_type":"gene"},{"created":"2022-03-02T19:28:02.629720+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigo has been classified as Green List (High Evidence).","entity_name":"PIGO","entity_type":"gene"},{"created":"2022-03-02T19:27:58.979565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4581","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGO were changed from HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882","entity_name":"PIGO","entity_type":"gene"},{"created":"2022-03-02T19:27:46.176170+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4580","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGO were set to ","entity_name":"PIGO","entity_type":"gene"},{"created":"2022-03-02T17:55:38.573382+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4579","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGT as ready","entity_name":"PIGT","entity_type":"gene"},{"created":"2022-03-02T17:55:38.563821+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4579","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":"2022-03-02T17:55:34.916116+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165","entity_name":"PIGT","entity_type":"gene"},{"created":"2022-03-02T17:55:22.300926+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4578","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGT were set to ","entity_name":"PIGT","entity_type":"gene"},{"created":"2022-03-02T17:53:15.378788+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4577","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGV as ready","entity_name":"PIGV","entity_type":"gene"},{"created":"2022-03-02T17:53:15.367305+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4577","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":"2022-03-02T17:53:11.532775+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGV were changed from HYPERPHOSPHATASIA WITH MENTAL RETARDATION to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398","entity_name":"PIGV","entity_type":"gene"},{"created":"2022-03-02T17:52:55.269847+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4576","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGV were set to ","entity_name":"PIGV","entity_type":"gene"},{"created":"2022-03-02T17:51:22.292824+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3CA as ready","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:51:22.280671+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3ca has been classified as Green List (High Evidence).","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:51:18.075186+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4575","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3CA were changed from CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI; HEMIMEGALENCEPHALY PIK3CA; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:50:58.662466+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4574","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIK3CA were set to 30712880; 28425981","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:50:41.152818+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4573","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:50:28.531826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4572","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified. \nSources: Expert list; to: Multiple congenital anomalies.\r\nSources: Expert list","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:48:55.044740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4572","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIK3CA: Changed rating: GREEN; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2022-03-02T17:46:56.238492+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4572","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R1 as ready","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2022-03-02T17:46:56.226642+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r1 has been classified as Green List (High Evidence).","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2022-03-02T17:46:52.420348+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3R1 were changed from AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; SHORT SYNDROME to SHORT syndrome, MIM#269880","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2022-03-02T17:46:27.697930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not part of the phenotype.; to: IUGR.","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2022-03-02T17:45:50.036292+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIK3R1: Changed rating: GREEN","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2022-03-02T17:45:11.289221+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.2","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: In family 2 with missense Gly130Ser, ther is 228 hets 0 homs in gnomAD v2. \r\n\r\nThis leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 14 affecteds across 2 generations; to: In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2. \r\n\r\nThis leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 14 affecteds across 2 generations","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-03-02T17:45:04.400311+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"1.2","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"COL9A3","entity_type":"gene"},{"created":"2022-03-02T17:43:45.357887+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3R2 as ready","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2022-03-02T17:43:45.349013+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r2 has been classified as Green List (High Evidence).","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2022-03-02T17:43:41.822137+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2022-03-02T17:43:26.226511+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4570","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIK3R2 were set to 28425981","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2022-03-02T17:43:10.597029+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4569","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3R2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2022-03-02T17:42:34.627470+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4568","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PITX3 as ready","entity_name":"PITX3","entity_type":"gene"},{"created":"2022-03-02T17:42:34.613112+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4568","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pitx3 has been classified as Green List (High Evidence).","entity_name":"PITX3","entity_type":"gene"},{"created":"2022-03-02T17:42:30.534750+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4568","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PITX3 were changed from CATARACT AUTOSOMAL DOMINANT; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CATARACT POSTERIOR POLAR TYPE 4 to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia","entity_name":"PITX3","entity_type":"gene"},{"created":"2022-03-02T17:42:15.980460+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4567","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PITX3 were set to ","entity_name":"PITX3","entity_type":"gene"},{"created":"2022-03-02T17:42:02.832858+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4566","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PITX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PITX3","entity_type":"gene"},{"created":"2022-03-02T17:41:03.309231+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4565","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKD1L1 as ready","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2022-03-02T17:41:03.297496+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkd1l1 has been classified as Green List (High Evidence).","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2022-03-02T17:40:58.657994+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4565","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKD1L1 were changed from Laterality defects to Heterotaxy, visceral, 8, autosomal (MIM#617205)","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2022-03-02T17:40:42.662099+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4564","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKD1L1 were set to ","entity_name":"PKD1L1","entity_type":"gene"},{"created":"2022-03-02T17:39:48.459991+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4563","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKHD1 as ready","entity_name":"PKHD1","entity_type":"gene"},{"created":"2022-03-02T17:39:48.449823+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkhd1 has been classified as Green List (High Evidence).","entity_name":"PKHD1","entity_type":"gene"},{"created":"2022-03-02T17:39:44.864797+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200","entity_name":"PKHD1","entity_type":"gene"},{"created":"2022-03-02T17:35:44.762288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4562","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Included due to possible phenotypic overlap. \nSources: Expert Review; to: Presents antenatally.\r\nSources: Expert Review","entity_name":"PKHD1","entity_type":"gene"},{"created":"2022-03-02T17:34:17.192765+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4562","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKLR as ready","entity_name":"PKLR","entity_type":"gene"}]}