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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=979",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}