{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1145","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1143","results":[{"created":"2021-11-04T16:27:05.327364+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAGEL2 as ready","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T16:27:05.317195+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: magel2 has been classified as Green List (High Evidence).","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T16:27:02.460813+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAGEL2 were changed from Congenital Obesity to Schaaf-Yang syndrome, MIM# 615547; Obesity","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T16:26:36.209883+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAGEL2 were set to ","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T16:26:23.974171+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAGEL2 was changed from  to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T16:26:15.874877+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAGEL2 as Green List (high evidence)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T16:26:15.863783+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: magel2 has been classified as Green List (High Evidence).","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T15:56:47.572410+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9425261, 9753710; Phenotypes: Obesity, severe, MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPARG","entity_type":"gene"},{"created":"2021-11-04T12:33:52.280356+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11136233, 15459958; Phenotypes: Obesity, mild, early-onset MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR0B2","entity_type":"gene"},{"created":"2021-11-04T11:43:24.678158+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MRAP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MRAP2","entity_type":"gene"},{"created":"2021-11-04T11:42:03.204183+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Daniel Flanagan","item_type":"entity","text":"Deleted their review","entity_name":"NR0B2","entity_type":"gene"},{"created":"2021-11-04T11:41:18.407810+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR0B2","entity_type":"gene"},{"created":"2021-11-04T10:52:17.321056+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMPD2 as ready","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-11-04T10:52:17.310829+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd2 has been classified as Green List (High Evidence).","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-11-04T10:52:12.968628+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMPD2 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 9, MIM#615809","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-11-04T10:52:00.746846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMPD2 were set to ","entity_name":"AMPD2","entity_type":"gene"},{"created":"2021-11-04T10:50:13.962725+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKR1C2 as ready","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:50:13.951802+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1c2 has been classified as Red List (Low Evidence).","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:50:05.509509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9600","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKR1C2 were changed from  to 46XY sex reversal 8, MIM# 614279; Obesity","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:49:46.146296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9599","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKR1C2 were set to ","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:49:27.833242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9598","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:49:10.726771+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9597","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKR1C2 as Red List (low evidence)","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:49:10.717041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1c2 has been classified as Red List (Low Evidence).","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:48:53.770168+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9596","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: 21802064, 25322899, 33675863; Phenotypes: 46XY sex reversal 8, MIM# 614279, Obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:46:57.207470+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKR1C2 as ready","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:46:57.196508+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akr1c2 has been classified as Red List (Low Evidence).","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:46:55.365789+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKR1C2 were changed from Obesity, hyperphagia, and developmental delay to Obesity","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:46:40.982645+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKR1C2 were set to ","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:46:33.352661+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKR1C2 was changed from  to Unknown","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T10:09:58.531746+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.71","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30238631, 24076603, 27195816; Phenotypes: Obesity, Excessive weight gain; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"MAGEL2","entity_type":"gene"},{"created":"2021-11-04T09:21:16.134184+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.71","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33675863, 25322899; Phenotypes: Obesity; Mode of inheritance: Unknown","entity_name":"AKR1C2","entity_type":"gene"},{"created":"2021-11-04T08:01:45.564878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9596","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMER1 as ready","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T08:01:45.554010+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amer1 has been classified as Green List (High Evidence).","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T08:01:32.298582+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9596","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMER1 were changed from  to Osteopathia striata with cranial sclerosis, MIM# 300373","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T08:01:07.131807+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9595","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMER1 were set to ","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T08:00:30.605615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9594","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T08:00:03.774679+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9593","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T07:59:12.697085+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMER1 as ready","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T07:59:12.685568+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amer1 has been classified as Green List (High Evidence).","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T07:58:58.627581+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS to Osteopathia striata with cranial sclerosis, MIM# 300373","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T07:58:46.715039+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMER1 were set to 28425981","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T07:58:17.841845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"AMER1","entity_type":"gene"},{"created":"2021-11-04T07:56:00.862249+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Bi-allelic variants are associated with FND and mono-allelic variants are associated with parietal foramina.","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:55:35.206454+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALX4: Changed phenotypes: Frontonasal dysplasia 2, MIM# 613451, Parietal foramina 2, MIM# 609597","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:55:21.911336+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALX4 as ready","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:55:21.895822+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx4 has been classified as Green List (High Evidence).","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:55:16.714732+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALX4 were changed from FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2 to Frontonasal dysplasia 2, MIM# 613451; Parietal foramina 2, MIM#\t609597","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:54:38.804878+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALX4 were set to ","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:54:07.892390+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALX4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:53:30.862960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:53:17.017695+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Majority of affected individuals have normal intelligence.; to: Well established gene-disease association.","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:53:01.267267+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALX4: Changed rating: GREEN","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-11-04T07:52:22.893604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALX3 as ready","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:52:22.882776+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx3 has been classified as Green List (High Evidence).","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:52:18.081895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALX3 were changed from FRONTONASAL DYSPLASIA TYPE 1 to Frontonasal dysplasia 1, MIM#136760","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:52:05.244636+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALX3 were set to ","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:51:51.971376+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Majority have normal intellectual function, demote to Amber.; to: Well established gene-disease association.","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:51:12.766576+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:51:09.298483+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALX3: Changed rating: GREEN","entity_name":"ALX3","entity_type":"gene"},{"created":"2021-11-04T07:50:46.081851+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALX1 as ready","entity_name":"ALX1","entity_type":"gene"},{"created":"2021-11-04T07:50:46.069132+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alx1 has been classified as Green List (High Evidence).","entity_name":"ALX1","entity_type":"gene"},{"created":"2021-11-04T07:50:41.929365+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALX1 were changed from FRONTONASAL DYSPLASIA TYPE 3 to Frontonasal dysplasia 3, MIM#613456","entity_name":"ALX1","entity_type":"gene"},{"created":"2021-11-04T07:50:29.495547+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALX1 were set to ","entity_name":"ALX1","entity_type":"gene"},{"created":"2021-11-04T07:50:15.266758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported with balletic variants in this gene and frontonasal dysplasia. Unclear whether intellectual disability is truly part of the phenotype or whether intellectual ability difficult to assess in presence of severe craniofacial abnormality.; to: Two families reported with balletic variants in this gene and frontonasal dysplasia, supportive animal models.","entity_name":"ALX1","entity_type":"gene"},{"created":"2021-11-04T07:49:57.858566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALX1: Changed rating: GREEN","entity_name":"ALX1","entity_type":"gene"},{"created":"2021-11-04T07:48:34.614836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT5B as ready","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:48:34.604998+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt5b has been classified as Red List (Low Evidence).","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:48:30.916627+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KMT5B were changed from KMT5B syndrome to Mental retardation, autosomal dominant 51, MIM#617788","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:48:17.766713+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KMT5B were set to ","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:48:04.640577+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KMT5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:47:50.636174+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple affected individuals from unrelated families. \nSources: Expert list; to: Multiple affected individuals from unrelated families. Predominantly presents with ID/autism, multiple congenital anomalies are not typically present.\r\nSources: Expert list","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:47:13.701397+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KMT5B: Changed rating: RED","entity_name":"KMT5B","entity_type":"gene"},{"created":"2021-11-04T07:46:30.797744+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG1 as ready","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:46:30.780060+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg1 has been classified as Green List (High Evidence).","entity_name":"ALG1","entity_type":"gene"},{"created":"2021-11-04T07:46:24.173373+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2021-11-04T07:46:24.154382+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Green List (High Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2021-11-04T07:46:19.351522+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from HYPOPHOSPHATASIA to Hypophosphatasia, infantile MIM# 241500","entity_name":"ALPL","entity_type":"gene"},{"created":"2021-11-04T07:46:06.959488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALPL were set to ","entity_name":"ALPL","entity_type":"gene"},{"created":"2021-11-04T07:45:55.252025+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2021-11-04T07:45:25.509090+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALMS1 as ready","entity_name":"ALMS1","entity_type":"gene"},{"created":"2021-11-04T07:45:25.498763+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alms1 has been classified as Green List (High Evidence).","entity_name":"ALMS1","entity_type":"gene"},{"created":"2021-11-04T07:45:21.553649+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALMS1 were changed from ALSTROM SYNDROME to Alstrom syndrome, MIM# 203800","entity_name":"ALMS1","entity_type":"gene"},{"created":"2021-11-04T07:45:00.943397+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism.\r\n\r\nCongenital anomalies are a rare feature.","entity_name":"ALMS1","entity_type":"gene"},{"created":"2021-11-04T07:43:44.848714+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG8 as ready","entity_name":"ALG8","entity_type":"gene"},{"created":"2021-11-04T07:43:44.838039+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg8 has been classified as Green List (High Evidence).","entity_name":"ALG8","entity_type":"gene"},{"created":"2021-11-04T07:43:38.212312+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG8 were changed from ALG8-CDG to Congenital disorder of glycosylation, type Ih, MIM# 608104","entity_name":"ALG8","entity_type":"gene"},{"created":"2021-11-04T07:43:27.548323+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG8 were set to ","entity_name":"ALG8","entity_type":"gene"},{"created":"2021-11-04T07:42:48.561605+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG6 as ready","entity_name":"ALG6","entity_type":"gene"},{"created":"2021-11-04T07:42:48.552024+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg6 has been classified as Green List (High Evidence).","entity_name":"ALG6","entity_type":"gene"},{"created":"2021-11-04T07:42:44.115418+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG6 were changed from ALG6-CDG to Congenital disorder of glycosylation, type Ic (MIM#603147)","entity_name":"ALG6","entity_type":"gene"},{"created":"2021-11-04T07:42:22.666477+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG6 were set to ","entity_name":"ALG6","entity_type":"gene"},{"created":"2021-11-04T07:42:06.996002+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 100 affected individuals reported.\r\n\r\nPMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.; to: Over 100 affected individuals reported. Mostly neurological features, though rare congenital anomalies such as missing phalanges reported.\r\n\r\nPMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.","entity_name":"ALG6","entity_type":"gene"},{"created":"2021-11-04T07:40:52.495311+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG3 as ready","entity_name":"ALG3","entity_type":"gene"},{"created":"2021-11-04T07:40:52.483678+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg3 has been classified as Green List (High Evidence).","entity_name":"ALG3","entity_type":"gene"},{"created":"2021-11-04T07:40:48.241780+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG3 were changed from ALG3-CDG to Congenital disorder of glycosylation, type Id, MIM# 601110","entity_name":"ALG3","entity_type":"gene"},{"created":"2021-11-04T07:39:54.591591+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG12 as ready","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-11-04T07:39:54.580831+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg12 has been classified as Green List (High Evidence).","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-11-04T07:39:50.338679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG12 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G to Congenital disorder of glycosylation, type Ig, MIM# 607143","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-11-04T07:39:37.423847+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG12 were set to ","entity_name":"ALG12","entity_type":"gene"},{"created":"2021-11-04T07:39:19.345120+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two individuals reported as part of a CDH cohort.\r\nSources: Literature; to: Multiple congenital anomalies, including cardiac, skeletal, CDH reported.\r\nSources: Literature","entity_name":"ALG12","entity_type":"gene"}]}