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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=717",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=715",
"results": [
{
"created": "2022-10-11T11:04:46.944619+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4990",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: GIGYF1 were set to 33057194",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:04:09.519335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.398",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIGYF1 as Green List (high evidence)",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:04:09.511086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.398",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gigyf1 has been classified as Green List (High Evidence).",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:03:49.181555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.397",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Intellectual disability, GIGYF1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:02:30.768594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4989",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GIGYF1 as Green List (high evidence)",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:02:30.759730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4989",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gigyf1 has been classified as Green List (High Evidence).",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:01:49.912216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4988",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35917186; Phenotypes: Autism, Intellectual disability, GIGYF1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:45:01.298509+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1697",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:44:20.073701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1696",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:44:13.870742+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1696",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: AMPD2",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:44:02.027367+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1696",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:43:47.489084+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1696",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:43:31.977756+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1696",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "commented on gene: ATP1A2",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-10-11T09:42:01.591416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1696",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2022-10-10T22:51:26.789047+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: mitochondrial encephalopathy, failure to thrive, developmental delay, hypotonia, cerebral atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-10-10T22:41:51.770055+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fasting hypoglycemia, metabolic acidosis, ketosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2022-10-10T22:35:01.194293+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-10-10T22:18:21.666304+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: petechiae, acrocyanosis, chronic diarrhoea, ID, regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:29:01.257958+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPAGT1 as ready",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:29:01.243226+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpagt1 has been classified as Green List (High Evidence).",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:28:40.671494+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, MIM#614750 to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:28:25.916926+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DPAGT1.",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:28:16.923289+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:26:14.981207+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOLK as ready",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:26:14.973759+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Red List (Low Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:26:08.677502+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOLK as Red List (low evidence)",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:26:08.667651+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Red List (Low Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:25:55.755631+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nCongenital onset. Severe multi-system disorder, mortality in infancy.; to: Established gene-disease association.\r\n\r\nCongenital onset. Severe multi-system disorder, mortality in infancy.\r\n\r\nNo specific treatment.",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:25:41.467736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:24:09.052448+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:24:09.036392+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Red List (Low Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:23:50.222006+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLD as Red List (low evidence)",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:23:50.211940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Red List (Low Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:23:38.387635+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:22:09.148989+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOMM7 as ready",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:22:09.139504+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tomm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:21:57.884359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOMM7 were changed from growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911 to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:21:27.519472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TOMM7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial disorder MONDO:0004069, TOMM7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:21:18.309108+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOMM7 as Amber List (moderate evidence)",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:21:18.301464+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tomm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:20:44.454545+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOMM7 was added\ngene: TOMM7 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148\nPhenotypes for gene: TOMM7 were set to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related\nReview for gene: TOMM7 was set to AMBER\nAdded comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion. \nSources: Literature",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:16:46.431021+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:16:10.127578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)\r\nPMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.\r\nPMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.; to: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)\r\nPMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.\r\nPMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.\r\n\r\nAssociation with bi-allelic variants is AMBER.",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:15:46.498681+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HECW2: Added comment: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)\r\nPMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.\r\nPMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.; Changed publications: 29807643, 29395664, 27334371, 27389779, 35753050, 35487419; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HECW2",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:13:32.498834+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM20B as ready",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:13:32.489471+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:13:27.336424+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM20B as Amber List (moderate evidence)",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:13:27.327316+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:12:54.577652+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20B was added\ngene: FAM20B was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802\nPhenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426\nReview for gene: FAM20B was set to AMBER\nAdded comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities. \nSources: Literature",
"entity_name": "FAM20B",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:10:00.830099+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:10:00.820076+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:09:54.405877+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome to Smith-Lemli-Opitz syndrome, MIM#270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:05:28.608600+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Amber List (moderate evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T20:05:28.599750+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:17:18.677565+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DHCR7.",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:17:10.354194+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:15:13.432145+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:15:13.422680+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Red List (Low Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:15:09.506723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:14:57.206798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DGUOK as Red List (low evidence)",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:14:57.197288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Red List (Low Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:14:48.715647+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: DGUOK.",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:14:40.338895+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:05:45.745351+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DDC.\nTag clinical trial tag was added to gene: DDC.",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:05:25.414431+11:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DDC.\nTag clinical trial tag was added to gene: DDC.",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:05:00.600500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DDC.\nTag clinical trial tag was added to gene: DDC.",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:04:39.941431+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:04:39.933232+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Green List (High Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:04:31.565363+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DDC.\nTag clinical trial tag was added to gene: DDC.",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:04:19.153267+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:02:43.967487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DGAT1.",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:02:29.429729+11:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DGAT1.",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:02:00.589279+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGAT1 as ready",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:02:00.581201+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgat1 has been classified as Green List (High Evidence).",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:01:53.696380+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: DGAT1.",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:01:45.591659+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:00:48.834185+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:00:48.822599+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Red List (Low Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:00:45.218220+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria to D-2-hydroxyglutaric aciduria MIM#600721",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:00:28.110411+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: D2HGDH as Red List (low evidence)",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:00:28.101403+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Red List (Low Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-10-10T19:00:15.961747+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:58:08.245194+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP27B1.",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:57:52.780313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP27B1.",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:57:29.315748+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP27B1 as ready",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:57:29.295510+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:57:24.793339+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27B1 were changed from Vitamin D-dependent rickets, type I to Vitamin D-dependent rickets, type I MIM#264700",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:57:11.857442+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP27B1.",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:57:04.063007+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:55:20.148033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:59.345244+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:59.335928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:55.361260+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, MIM# 213700",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:42.306992+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Amber List (moderate evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:42.298503+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:32.646337+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CYP27A1.\nTag treatable tag was added to gene: CYP27A1.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:16.419194+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYP27A1: Changed rating: RED",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:54:08.456641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:40:48.569759+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP17A1.",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2022-10-10T18:40:16.510251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP17A1.",
"entity_name": "CYP17A1",
"entity_type": "gene"
}
]
}