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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1094",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1092",
"results": [
{
"created": "2021-12-06T21:08:36.949905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dym has been classified as Green List (High Evidence).",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:08:19.538508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYM were changed from to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:08:00.588033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYM were set to ",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:07:27.002278+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:07:08.870599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12491225, 12554689, 16470731, 19005420; Phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:06:22.825614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYM as ready",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:06:22.814720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dym has been classified as Green List (High Evidence).",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:06:16.439753+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYM were changed from SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:05:58.127612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYM: Changed phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:05:21.602278+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYM were set to ",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:05:06.290818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.\r\n\r\nSmith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.\r\n\r\nThe two conditions likely represent a spectrum rather than two distinct disorders.",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:04:19.041626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731, 19005420",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:03:21.907033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:03:07.900693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:03:03.927930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYM: Changed publications: 12491225, 12554689, 16470731",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:02:19.834482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: DYM: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:01:02.546360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPM1 as ready",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:01:02.534538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpm1 has been classified as Green List (High Evidence).",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:00:46.817790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPM1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ie, 608799",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:00:34.284459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPM1 were set to ",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T21:00:20.885207+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.\r\n\r\nPMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic\r\n\r\nPMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.; to: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.\r\n\r\nPMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic\r\n\r\nPMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.\r\n\r\nContractures also reported.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:58:42.867250+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPAGT1 as ready",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:58:42.856702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1079",
"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": "2021-12-06T20:58:39.048644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPAGT1 were changed from MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG 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": "2021-12-06T20:58:26.935134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:58:09.113145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.\r\n\r\nMyasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:57:55.923283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078; Changed phenotypes: 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": "2021-12-06T20:56:56.915257+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPAGT1 were set to ",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:56:13.602354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOLK as ready",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:56:13.588563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:55:46.067914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOLK were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:55:32.291018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOLK were set to 28816422",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:55:19.889786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DOLK was changed from Other to None",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:55:06.168236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOLK as Amber List (moderate evidence)",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:55:06.157309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:54:52.507777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOLK: Added comment: Microcephaly is acquired, and DCM described in early childhood. Typical presentation is with seizures and hypotonia.; Changed rating: AMBER",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:45:26.087534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOK7 as ready",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:45:26.075926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dok7 has been classified as Green List (High Evidence).",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:45:21.076967+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389 to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:45:05.043751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to 30266093",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:44:43.551796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:44:40.166413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOK7: Added comment: Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404.\r\n\r\nAssociation with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.; Changed rating: GREEN; Changed publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Changed phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:42:39.581666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK6 as ready",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:42:39.570580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock6 has been classified as Green List (High Evidence).",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:42:30.475321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:42:08.102335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK6 were set to ",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:41:47.921508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:41:32.567422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK6 were set to ",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:41:20.318291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOCK6: Changed publications: 21820096, 23522784, 25132448, 25824905",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:41:10.285620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable brain involvement, including ID. Transverse limb defects.; to: Variable brain involvement, including ID. Transverse limb defects.\r\n\r\nMore than 10 unrelated families reported.",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:40:50.514385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:39:04.993662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK6 as ready",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:39:04.978451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock6 has been classified as Green List (High Evidence).",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:38:54.394392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK6 were changed from ADAMS-OLIVER SYNDROME 2 to Adams-Oliver syndrome 2, MIM#614219",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:38:38.185422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variable brain involvement, including ID.; to: Variable brain involvement, including ID. Transverse limb defects.",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:36:21.841288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:35:57.617344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNMT3A: Changed phenotypes: Tatton-Brown-Rahman syndrome, MIM# 615879, Heyn-Sproul-Jackson syndrome, MIM# 618724",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:35:23.553646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3A as ready",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:35:23.543838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3a has been classified as Green List (High Evidence).",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:35:15.742845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY to Tatton-Brown-Rahman syndrome, MIM#\t615879; Heyn-Sproul-Jackson syndrome, MIM#\t618724",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:34:31.413602+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNMT3A were set to ",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:34:18.760429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNMT3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:32:49.884105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAI1 as ready",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:32:49.872712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnai1 has been classified as Green List (High Evidence).",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:32:28.834397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia 244400 to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:32:13.896416+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAI1 were set to ",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:31:11.540322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH9 as ready",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:31:11.517893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:30:59.834831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:30:39.717884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH9 were set to ",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:30:00.107696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:29:42.329866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:28:41.449478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH9 as ready",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:28:41.440487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:28:37.138511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH9 were changed from Motile Cilia Defects and Situs Inversus to Ciliary dyskinesia, primary, 40, MIM# 618300",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:27:49.981209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH5 as ready",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:27:49.970076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:27:45.245261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH5 were changed from CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Heterotaxy",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2021-12-06T20:27:23.748139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH5 were set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:32:30.545442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:32:30.530242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:32:26.497604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D; TRICHOTHIODYSTROPHY PHOTOSENSITIVE; CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:32:14.115006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC2 were set to ",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:31:55.102293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:30:44.471799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:30:25.730481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:30:10.674732+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781; Bronchiectasis",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:29:38.347567+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:28:56.943879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK10 as ready",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:28:56.932714+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek10 has been classified as Red List (Low Evidence).",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:28:51.114800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK10 as Red List (low evidence)",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:28:51.104564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek10 has been classified as Red List (Low Evidence).",
"entity_name": "NEK10",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:27:55.310417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:27:55.297605+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Green List (High Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:27:51.727107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFAP were changed from ALEXANDER DISEASE to Alexander disease MIM#203450",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:27:40.407774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFAP were set to ",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:27:29.396445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GFAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:26:51.652624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIX as ready",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:26:51.641638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfix has been classified as Green List (High Evidence).",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2021-12-06T18:26:42.061405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFIX were changed from to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535",
"entity_name": "NFIX",
"entity_type": "gene"
}
]
}