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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=988",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=986",
"results": [
{
"created": "2022-02-17T20:16:01.696979+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATM: Changed rating: RED",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:15:35.100038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATAD2B as ready",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:15:35.089873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:15:31.536450+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATAD2B were changed from NONSPECIFIC SEVERE ID to GAND syndrome, MIM# 615074",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:15:14.394611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATAD2B were set to ",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:15:01.530760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATAD2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:14:51.353255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATAD2B as Amber List (moderate evidence)",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:14:51.338276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T20:14:38.944801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GAND syndrome 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:53:52.675995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH6 as ready",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:53:52.665543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh6 has been classified as Green List (High Evidence).",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:53:09.769349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH6 were changed from ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14; CARDIOMYOPATHY DILATED TYPE 1EE to Atrial septal defect 3 (MIM#614089)",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:52:55.981081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH6 were set to ",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:48:26.176007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS8 as ready",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:48:26.166209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas8 has been classified as Red List (Low Evidence).",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:48:02.768383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS8 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 33, MIM# 616726",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:47:50.490597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS8 were set to 30166424",
"entity_name": "GAS8",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:47.041709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:47.030668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Red List (Low Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:41.134621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALT were changed from GALACTOSEMIA to Galactosaemia, MIM#230400",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:26.055122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical presentation is typically postnatal.; to: Clinical presentation is typically postnatal.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:25.816348+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Most cases should be detected by newborn screening where available, but ID is part of the phenotype.; to: Clinical presentation is typically postnatal.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:10.931007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GALT: Changed phenotypes: Galactosaemia, MIM#230400",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:45:03.125014+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GALT: Changed rating: RED",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:44:27.779371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRB3 as ready",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:44:27.770303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrb3 has been classified as Red List (Low Evidence).",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:44:23.381265+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRB3 were changed from CHILDHOOD ABSENCE EPILEPSY TYPE 5; EPILEPTIC ENCEPHALOPATHIES to Epileptic encephalopathy, early infantile, 43, MIM# 617113",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:43:56.101097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRB3 were set to ",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:43:42.742564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:43:27.888248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRB3: Changed rating: RED",
"entity_name": "GABRB3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:39:20.137230+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTSJ1 as ready",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:39:20.124914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftsj1 has been classified as Red List (Low Evidence).",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:39:16.385373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTSJ1 were changed from MENTAL RETARDATION X-LINKED TYPE 44 to Intellectual developmental disorder, X-linked 9, MIM#\t309549",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:38:19.710915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTSJ1 were set to ",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:37:47.493973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP1 as ready",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:37:47.482252+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:37:43.759796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP1 were changed from MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES to Mental retardation with language impairment and with or without autistic features, MIM# 613670",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:37:28.031364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP1 were set to ",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:36:35.240341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:36:21.582759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported as part of a CDH cohort. \nSources: Literature; to: Single individual reported as part of a CDH cohort. Otherwise clinical presentation is typically post-natal.\r\nSources: Literature",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:35:20.162725+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLVCR1 as ready",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:35:20.149849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Red List (Low Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:35:16.410198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR1 were changed from ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:34:48.396736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: progressive neurological condition, ID is not really part of the phenotype.; to: progressive neurological condition, postnatal onset.",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:29:42.809000+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF12 as ready",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:29:42.797951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf12 has been classified as Red List (Low Evidence).",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:29:22.472935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF12 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 47, MIM# 617166",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:28:55.726647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF12 were set to ",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:28:44.711768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:28:30.085438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF12: Changed rating: RED",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:26:54.510090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO11 as ready",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:26:54.498396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo11 has been classified as Red List (Low Evidence).",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:26:48.067317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO11 were changed from Variable Neurodevelopmental Disorder to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:26:34.746391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXO11 were set to 30057029",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:26:22.031271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXO11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:26:08.842634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089; Mode of inheritance: None",
"entity_name": "FBXO11",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:24:13.052993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:24:13.042112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Red List (Low Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:24:09.481386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FARS2 were changed from Neurometabolic disorder due to FARS2 deficiency to Combined oxidative phosphorylation deficiency 14, MIM#614946",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:23:46.761013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:23:34.204368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Severe neurologic phenotype described.; to: Clinical presentation is typically postnatal.",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:23:20.123645+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FARS2: Changed rating: RED",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:17:21.558187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6L2 as ready",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:17:21.542811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:17:17.707680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6L2 were changed from BONE MARROW FAILURE SYNDROME 2 to Bone marrow failure syndrome 2, MIM# 615715",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:17:03.763855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6L2 were set to ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:15:42.151098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC6L2 as Amber List (moderate evidence)",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:15:42.139077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:15:25.613839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2, MIM# 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:12:46.640422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3631",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:EPHX1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-02-17T18:11:11.964621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP1 as ready",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:11:11.953156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:11:08.782132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENPP1 were changed from HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 to Arterial calcification, generalized, of infancy, 1, MIM3 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:10:56.681339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENPP1 were set to ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:10:45.587526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENPP1 as Amber List (moderate evidence)",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:10:45.557405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:10:33.576784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19521093; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM3 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:07:24.794659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGR2 as ready",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:07:24.784006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egr2 has been classified as Red List (Low Evidence).",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:07:18.728930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EGR2 were changed from NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 to Charcot-Marie-Tooth disease, type 1D, MIM# 607678; Dejerine-Sottas disease, MIM# 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:07:05.798030+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:06:53.440687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D, MIM# 607678, Dejerine-Sottas disease, MIM# 145900, Hypomyelinating neuropathy, congenital, 1, MIM# 605253; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:05:15.255300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUSP6 as ready",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:05:15.246363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:05:09.457211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to ",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:04:57.668337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:04:17.377759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMP1 as ready",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:04:17.366966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmp1 has been classified as Red List (Low Evidence).",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:04:13.720175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMP1 were changed from HYPOPHOSPHATEMIC RICKETS, AR to Hypophosphatemic rickets, AR MIM#241520",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:04:01.268057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DMP1 were set to ",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:03:16.609757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG3 as ready",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:03:16.598442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg3 has been classified as Red List (Low Evidence).",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:03:09.460821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG3 were changed from MENTAL RETARDATION X-LINKED TYPE 90 to Mental retardation, X-linked 90, MIM#300850",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:02:57.289476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLG3 were set to ",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:02:35.082536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 6 unrelated families reported. Some females have mild symptoms.; to: At least 6 unrelated families reported. Clinical presentation is typically post-natal.",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:02:20.364893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLG3: Changed rating: RED",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:01:41.164258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLAT as ready",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:01:41.154205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlat has been classified as Red List (Low Evidence).",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:01:32.912258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY to Pyruvate dehydrogenase E2 deficiency, MIM#245348",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2022-02-17T18:01:20.412268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLAT were set to ",
"entity_name": "DLAT",
"entity_type": "gene"
}
]
}