{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=979","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=977","results":[{"created":"2022-02-22T16:34:29.279732+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131976, 24603435, 27448281, 25790162; Phenotypes: Treacher Collins syndrome 2, MIM# 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLR1D","entity_type":"gene"},{"created":"2022-02-22T16:32:52.325997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3881","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFRB as ready","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2022-02-22T16:32:52.315256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2022-02-22T16:32:48.466827+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3881","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDGFRB were changed from FAMILIAL INFANTILE MYOFIBROMATOSIS; PREMATURE AGING SYNDROME, PENTTINEN TYPE to Premature aging syndrome, Penttinen type, MIM# 601812","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2022-02-22T16:32:33.848033+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3880","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDGFRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2022-02-22T16:32:21.561972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature aging syndrome, Penttinen type, MIM# 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2022-02-22T16:14:24.737563+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANXA11 as ready","entity_name":"ANXA11","entity_type":"gene"},{"created":"2022-02-22T16:14:24.725309+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: anxa11 has been classified as Green List (High Evidence).","entity_name":"ANXA11","entity_type":"gene"},{"created":"2022-02-22T16:14:22.561594+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANXA11 were changed from Amytrophic lateral sclerosis 23 MIM#617839 to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733; Amyotrophic lateral sclerosis 23, MIM# 617839","entity_name":"ANXA11","entity_type":"gene"},{"created":"2022-02-22T16:13:54.757204+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997","entity_name":"ANXA11","entity_type":"gene"},{"created":"2022-02-22T16:13:15.400745+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANXA11: Rating: GREEN; Mode of pathogenicity: None; Publications: 34048612, 28469040; Phenotypes: Inclusion body myopathy and brain white matter abnormalities, MIM# 619733, Amyotrophic lateral sclerosis 23, MIM# 617839; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANXA11","entity_type":"gene"},{"created":"2022-02-22T15:06:14.106321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11063","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC22A4 as ready","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T15:06:14.095892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a4 has been classified as Red List (Low Evidence).","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T15:06:05.796691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11063","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC22A4 were changed from  to susceptibility to rheumatoid arthritis MIM#180300","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T15:05:44.521282+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11062","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC22A4 were set to ","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T15:05:22.338059+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11061","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC22A4 as Red List (low evidence)","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T15:05:22.329056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11061","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a4 has been classified as Red List (Low Evidence).","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T15:04:06.300264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAR as ready","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T15:04:06.289529+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: star has been classified as Green List (High Evidence).","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T15:03:59.972725+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAR were changed from CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA to Lipoid adrenal hyperplasia (MIM#201710)","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T15:03:40.877995+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3878","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAR were set to ","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T15:03:10.983895+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3877","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T15:01:30.364559+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX6 were set to 32399598","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-02-22T15:01:10.038630+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX6 as Amber List (moderate evidence)","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-02-22T15:01:10.026054+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex6 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-02-22T14:58:52.683289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11060","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSF2BP were set to 32845237","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:58:24.936695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11059","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSF2BP as Green List (high evidence)","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:58:24.927211+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11059","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsf2bp has been classified as Green List (High Evidence).","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:58:04.613525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11058","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HSF2BP: Added comment: An additional two patients are described with homozygous missense variants, with supportive in vitro functional assay. PMID: 35174157 Now there are 5 affected patients from three independent families and three different biallelic missense variants associated with the condition.; Changed rating: GREEN; Changed publications: 32845237, 35174157","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:54:15.959331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11058","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SLC22A4: Rating: RED; Mode of pathogenicity: None; Publications: 15184985, 24972750; Phenotypes: susceptibility to rheumatoid arthritis MIM#180300; Mode of inheritance: None; Current diagnostic: yes","entity_name":"SLC22A4","entity_type":"gene"},{"created":"2022-02-22T14:46:27.623420+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3877","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8948562, 16968793; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T14:45:54.824621+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSF2BP were set to 32845237","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:45:39.357459+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSF2BP as Green List (high evidence)","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:45:39.346376+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsf2bp has been classified as Green List (High Evidence).","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T14:45:01.849256+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3877","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRD5A2 as ready","entity_name":"SRD5A2","entity_type":"gene"},{"created":"2022-02-22T14:45:01.805204+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srd5a2 has been classified as Green List (High Evidence).","entity_name":"SRD5A2","entity_type":"gene"},{"created":"2022-02-22T14:44:46.066289+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3877","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SRD5A2 were set to ","entity_name":"SRD5A2","entity_type":"gene"},{"created":"2022-02-22T14:44:06.059445+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX9 as ready","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-02-22T14:44:06.045389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox9 has been classified as Green List (High Evidence).","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-02-22T14:44:01.162872+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX9 were changed from CAMPOMELIC DYSPLASIA; PIERRE ROBIN SEQUENCE to Campomelic dysplasia with autosomal sex reversal (MIM#114290); Campomelic dysplasia (MIM#114290); Acampomelic campomelic dysplasia (MIM#114290)","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-02-22T14:43:46.594723+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3875","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX9 were set to 30712880; 28425981","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-02-22T14:43:28.121622+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3874","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOX9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-02-22T14:42:55.312746+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX17 as ready","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:42:55.298525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox17 has been classified as Red List (Low Evidence).","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:42:51.734990+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX17 were changed from VESICOURETERAL REFLUX TYPE 3 to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:42:36.519455+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3872","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX17 were set to ","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:42:22.675214+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3871","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOX17 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:42:12.838145+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3870","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOX17 as Red List (low evidence)","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:42:12.827599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3870","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox17 has been classified as Red List (Low Evidence).","entity_name":"SOX17","entity_type":"gene"},{"created":"2022-02-22T14:28:42.322530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3869","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: STAR: Rating: RED; Mode of pathogenicity: None; Publications: 7892608, 8948562, 9097960, 11061515, 11297612, 14764819, 16968793, 9326645; Phenotypes: Lipoid adrenal hyperplasia MIM#201710; Mode of inheritance: None","entity_name":"STAR","entity_type":"gene"},{"created":"2022-02-22T13:51:03.596420+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.287","user_name":"Elena Hateley","item_type":"entity","text":"Deleted their review","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T13:49:06.093616+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.287","user_name":"Elena Hateley","item_type":"entity","text":"Deleted their review","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-02-22T13:48:47.112423+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.287","user_name":"Elena Tucker","item_type":"entity","text":"reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31555682, PMID: 32399598; Phenotypes: syndromic premature ovarian insufficiency, peroxisomal biogenesis disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-02-22T13:47:01.857758+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.287","user_name":"Elena Hateley","item_type":"entity","text":"reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31555682, PMID: 32399598; Phenotypes: premature ovarian insufficiency, peroxisomal biogenesis disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2022-02-22T13:34:24.080737+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.287","user_name":"Elena Tucker","item_type":"entity","text":"reviewed gene: HSF2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32845237, PMID: 35174157; Phenotypes: premature ovarian insufficiency; Mode of inheritance: None","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T13:26:47.677471+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.287","user_name":"Elena Hateley","item_type":"entity","text":"reviewed gene: HSF2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35174157, PMID: 32845237; Phenotypes: premature ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSF2BP","entity_type":"gene"},{"created":"2022-02-22T12:32:26.055882+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3869","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12843198, 11869378, 18350250, 1944596; Phenotypes: Pseudovaginal perineoscrotal hypospadias (MIM#264600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SRD5A2","entity_type":"gene"},{"created":"2022-02-22T12:00:11.217332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3869","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRT2 as ready","entity_name":"PRRT2","entity_type":"gene"},{"created":"2022-02-22T12:00:11.206085+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3869","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Red List (Low Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2022-02-22T12:00:07.217113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3869","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRT2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751; intellectual disability, autosomal recessive","entity_name":"PRRT2","entity_type":"gene"},{"created":"2022-02-22T11:59:43.567857+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3868","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRRT2 were set to ","entity_name":"PRRT2","entity_type":"gene"},{"created":"2022-02-22T11:59:27.217820+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not part of the phenotype for the mono allelic conditions; two families described with bi-allelic variants and more severe neurological phenotype, including ID.; to: Clinical presentation is typically post-natal.","entity_name":"PRRT2","entity_type":"gene"},{"created":"2022-02-22T11:59:14.723965+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRRT2: Changed rating: RED","entity_name":"PRRT2","entity_type":"gene"},{"created":"2022-02-22T11:56:11.550928+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPM1D as ready","entity_name":"PPM1D","entity_type":"gene"},{"created":"2022-02-22T11:56:11.536897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppm1d has been classified as Red List (Low Evidence).","entity_name":"PPM1D","entity_type":"gene"},{"created":"2022-02-22T11:56:07.924543+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPM1D were changed from PPM1D syndrome to Jansen de Vries syndrome (MIM #617450)","entity_name":"PPM1D","entity_type":"gene"},{"created":"2022-02-22T11:55:56.812669+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPM1D were set to ","entity_name":"PPM1D","entity_type":"gene"},{"created":"2022-02-22T11:55:45.472187+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3865","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPM1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPM1D","entity_type":"gene"},{"created":"2022-02-22T11:55:32.936164+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3864","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPM1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PPM1D","entity_type":"gene"},{"created":"2022-02-22T11:54:24.617801+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:54:24.608442+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Amber List (Moderate Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:54:21.113234+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 4A to POLG-related disorders","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:54:07.172469+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3863","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG were set to ","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:53:54.054097+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3862","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:53:44.433748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3861","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLG as Amber List (moderate evidence)","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:53:44.422857+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3861","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Amber List (Moderate Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:53:32.036185+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.\r\n\r\nFetal presentation with cerebellar abnormalities reported PMID 29574624.; to: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants, though onset may be later.\r\n\r\nFetal presentation with cerebellar abnormalities reported PMID 29574624.","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:53:21.524496+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLG: Changed rating: AMBER","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:52:52.875613+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.; to: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.\r\n\r\nFetal presentation with cerebellar abnormalities reported PMID 29574624.","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:52:26.758241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLG: Changed publications: 20301791, 29358615, 22405928, 29574624","entity_name":"POLG","entity_type":"gene"},{"created":"2022-02-22T11:51:30.637851+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLD1 as ready","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:51:30.626584+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pold1 has been classified as Green List (High Evidence).","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:51:26.427836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLD1 were changed from SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:51:14.381288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3859","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLD1 were set to ","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:51:02.997473+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3858","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:50:53.248652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3857","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLD1 as Green List (high evidence)","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:50:53.236968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pold1 has been classified as Green List (High Evidence).","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:50:41.006709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:50:36.772652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLD1: Added comment: Four unrelated individuals with deletion of ser605 residue reported. Mandibular hypoplasia would be identifiable antenatally.; Changed rating: GREEN; Changed publications: 23770608; Changed phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLD1","entity_type":"gene"},{"created":"2022-02-22T11:49:05.453522+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3856","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9002675; Phenotypes: Campomelic dysplasia with autosomal sex reversal (MIM#114290), Campomelic dysplasia (MIM#114290), Acampomelic campomelic dysplasia (MIM#114290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX9","entity_type":"gene"},{"created":"2022-02-22T11:47:58.884583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHB as ready","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:47:58.871242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhb has been classified as Amber List (Moderate Evidence).","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:47:55.163092+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:47:40.736497+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3855","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDHB were set to 26865159","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:46:00.430550+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3854","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHB as Amber List (moderate evidence)","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:46:00.402209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhb has been classified as Amber List (Moderate Evidence).","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:45:47.749392+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3853","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:45:44.011849+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3853","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDHB: Changed rating: AMBER","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:45:35.971616+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3853","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDHB: Added comment: Fetal presentation at 22 weeks reported with intrauterine growth retardation, short corpus callosum, ventricular dilation, and cerebellar hypoplasia, PMID 26865159.; Changed publications: 15138885, 26014431, 26865159","entity_name":"PDHB","entity_type":"gene"},{"created":"2022-02-22T11:43:33.798182+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3853","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NT5C2 as ready","entity_name":"NT5C2","entity_type":"gene"}]}