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"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1012",
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"results": [
{
"created": "2022-02-02T10:29:34.226281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10836",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33980986, 32105419, 9806916; Phenotypes: Severe motor and cognitive impairment, Intellectual disability, Brunet-Wagner neurodevelopmental syndrome MIM#619690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:29:33.326654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33980986, 32105419, 9806916; Phenotypes: Severe motor and cognitive impairment, Intellectual disability, Brunet-Wagner neurodevelopmental syndrome MIM#619690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:29:29.507351+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.98",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RBL2 was added\ngene: RBL2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBL2 were set to PMID: 33980986; 32105419; 9806916\nPhenotypes for gene: RBL2 were set to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690\nReview for gene: RBL2 was set to AMBER\nAdded comment: PMID: 33980986: 2 unrelated patients (3 total) with infantile hypotonia, severe developmental delay and microcephaly. Functional studies on patient fibroblasts supports loss of protein and mRNA expression. Patients were homozygous for a PTC, and a CNV (exon 4-5 del)\r\n\r\nPMID: 32105419: affecting siblings with severe intellectual disability, stereotypies and dysmorphic features. Chet PTC/CNV (exon 13-17 del).\r\n\r\n3 unrelated families - 2/3 corpus callosum hypoplasia/cerebral atrophy, 2/3 epilepsy, 2/3 microcephaly \r\n\r\nPMID: 9806916: mouse model in support \nSources: Literature",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:29:27.964726+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.43",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: RBL2 was added\ngene: RBL2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBL2 were set to PMID: 33980986; 32105419; 9806916\nPhenotypes for gene: RBL2 were set to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome MIM#619690\nReview for gene: RBL2 was set to AMBER\nAdded comment: PMID: 33980986: 2 unrelated patients (3 total) with infantile hypotonia, severe developmental delay and microcephaly. Functional studies on patient fibroblasts supports loss of protein and mRNA expression. Patients were homozygous for a PTC, and a CNV (exon 4-5 del)\r\n\r\nPMID: 32105419: affecting siblings with severe intellectual disability, stereotypies and dysmorphic features. Chet PTC/CNV (exon 13-17 del).\r\n\r\n3 unrelated families - 2/3 corpus callosum hypoplasia/cerebral atrophy, 2/3 epilepsy, 2/3 microcephaly \r\n\r\nPMID: 9806916: mouse model in support \nSources: Literature",
"entity_name": "RBL2",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:28:07.550855+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:28:07.520383+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:28:03.911853+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Green List (high evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:28:03.899680+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:27:57.211249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10836",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 7 families 6 of whom are consanguineous but unique variants in all of them\r\n\r\nAcquired microcephaly noted (8/10 with <-2 SD, 5/10 <-3 SD)\r\n\r\n10/10 with axial hopotonia, absent speech, GDD/ID\r\n9/10 with visual impairment\r\n8/10 with seizures\r\n8/10 with peripheral hypertonia \nSources: Literature; to: 7 families 6 of whom are consanguineous but unique variants in all of them\r\n\r\nAcquired microcephaly noted (8/10 with >-2 SD, 5/10 >-3 SD)\r\n\r\n10/10 with axial hopotonia, absent speech, GDD/ID\r\n9/10 with visual impairment\r\n8/10 with seizures\r\n8/10 with peripheral hypertonia \r\nSources: Literature",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:27:35.357183+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRA10AC1 was added\ngene: FRA10AC1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRA10AC1 were set to 34694367\nPhenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related\nReview for gene: FRA10AC1 was set to GREEN\nAdded comment: PMID 34694367: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. \nSources: Literature",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:27:18.455754+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1440",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: FZR1 was added\ngene: FZR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FZR1 were set to 34788397\nPhenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062\nReview for gene: FZR1 was set to GREEN\nAdded comment: >3 unrelated individuals reported with de novo missense variants. Functional studies in Drosophila demonstrate missense variants cause LOF. \nSources: Literature",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:27:00.643642+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:27:00.610015+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:26:58.508171+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Green List (high evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:26:58.496716+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:26:56.814472+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1439",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SLC38A3 was added\ngene: SLC38A3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A3 were set to 34605855\nPhenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062\nPenetrance for gene: SLC38A3 were set to Complete\nReview for gene: SLC38A3 was set to GREEN\ngene: SLC38A3 was marked as current diagnostic\nAdded comment: 7 families 6 of whom are consanguineous but unique variants in all of them\r\n\r\n8/10 with seizures \nSources: Literature",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:26:15.852480+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRA10AC1 was added\ngene: FRA10AC1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRA10AC1 were set to 34694367\nPhenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related\nReview for gene: FRA10AC1 was set to GREEN\nAdded comment: PMID 34694367: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. \nSources: Literature",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:26:10.848007+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SLC38A3 was added\ngene: SLC38A3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A3 were set to 34605855\nPhenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062\nPenetrance for gene: SLC38A3 were set to Complete\nReview for gene: SLC38A3 was set to GREEN\ngene: SLC38A3 was marked as current diagnostic\nAdded comment: 7 families 6 of whom are consanguineous but unique variants in all of them\r\n\r\n10/10 with GDD/ID \nSources: Literature",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:25:18.200033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10836",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TMEM53 was added\ngene: TMEM53 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM53 were set to PMID: 33824347\nPhenotypes for gene: TMEM53 were set to Sclerosing bone disorder, macrocephaly, impaired vision, short stature\nReview for gene: TMEM53 was set to GREEN\nAdded comment: PMID: 33824347- Previously unknown type of sclerosing bone disorder in 4 independent families, bi-allelic LOF variants in TMEM53. 5 individuals from 4 families, all have proportional or short limbed stature, not identifiable at birth. Head deformities (macrocephaly, dolichocephaly, prominent forehead), epicanthic folds, thick vermilion of upper and lower lips. Vision diminished after early childhood due to optic nerve compression.\r\n\r\n3 of 4 families confirmed consanguineous, and all affected members from all 4 families have homozygous variants inherited from heterozygous parents. 3 families have the same splicing variant proven to cause exon 2 skipping and an NMD frameshift by RT-PCR. The other family has a an NMD frameshift variant. So 4 families but only 2 variants. \nSources: Literature",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:25:06.777155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10836",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SLC38A3 was added\ngene: SLC38A3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC38A3 were set to 34605855\nPhenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062\nReview for gene: SLC38A3 was set to GREEN\ngene: SLC38A3 was marked as current diagnostic\nAdded comment: 7 families 6 of whom are consanguineous but unique variants in all of them\r\n\r\nAcquired microcephaly noted (8/10 with <-2 SD, 5/10 <-3 SD)\r\n\r\n10/10 with axial hopotonia, absent speech, GDD/ID\r\n9/10 with visual impairment\r\n8/10 with seizures\r\n8/10 with peripheral hypertonia \nSources: Literature",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:53.166541+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:53.153004+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:49.023478+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Green List (high evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:49.014253+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:41.468693+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRA10AC1 was added\ngene: FRA10AC1 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRA10AC1 were set to 34694367\nPhenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related\nReview for gene: FRA10AC1 was set to GREEN\nAdded comment: PMID 34694367: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. \nSources: Literature",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:37.913149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10836",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: FZR1 was added\ngene: FZR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FZR1 were set to 34788397\nPhenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062\nReview for gene: FZR1 was set to GREEN\nAdded comment: >3 unrelated individuals reported with de novo missense variants. Functional studies in Drosophila demonstrate missense variants cause LOF. \nSources: Literature",
"entity_name": "FZR1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:26.746683+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:26.733880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:23.309813+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Green List (high evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:24:23.297057+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Green List (High Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:23:46.211842+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.2",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ARSK was added\ngene: ARSK was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSK were set to 34916232; 32856704\nPhenotypes for gene: ARSK were set to Mucopolysaccharidosis\nReview for gene: ARSK was set to GREEN\ngene: ARSK was marked as current diagnostic\nAdded comment: 4 individuals from 2 unrelated consanguineous families reported with a homozygous missense and an NMD-predicted nonsense variant, who had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively. \r\n\r\nA mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.\r\n\r\nRated green (2 families, functional evidence, mouse model). \nSources: Literature",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:23:35.519167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: MAN2C1 was added\ngene: MAN2C1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2C1 were set to 35045343\nPhenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related\nReview for gene: MAN2C1 was set to GREEN\nAdded comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense. \nSources: Literature",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:22:07.961286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRA10AC1 was added\ngene: FRA10AC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRA10AC1 were set to 34694367\nPhenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related\nReview for gene: FRA10AC1 was set to GREEN\nAdded comment: PMID 34694367: 5 individuals from 3 unrelated families reported.\r\n\r\nVariable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. \nSources: Literature",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:21:48.474532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ARSK was added\ngene: ARSK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSK were set to 34916232; 32856704\nPhenotypes for gene: ARSK were set to Mucopolysaccharidosis\nReview for gene: ARSK was set to GREEN\ngene: ARSK was marked as current diagnostic\nAdded comment: 4 individuals from 2 unrelated consanguineous families (Turkish and Indian) reported with a homozygous missense and an NMD-predicted nonsense variant. Affected individuals had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively. \r\n\r\nA mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.\r\n\r\nRated green (2 families, functional evidence, mouse model). \nSources: Literature",
"entity_name": "ARSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:20:31.374778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Conclusion of this study was that FRA10A is likely a benign folate-sensitive fragile site.; to: PMID 15203205: Conclusion of this study was that FRA10A is likely a benign folate-sensitive fragile site.",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T10:20:14.162441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRA10AC1: Added comment: PMID 34694367: 5 individuals from 3 unrelated families reported.\r\n\r\nVariable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.; Changed rating: GREEN; Changed publications: 15203205, 34694367; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:58:23.909098+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYBPC1 were set to ",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:57:48.983564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS8 as ready",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:57:48.972071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs8 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:56:33.711422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS8 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:56:17.997937+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS8 were set to ",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:54:30.430857+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUSK were set to ",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:53:48.972057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTOR were set to ",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:53:36.447773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MTOR was changed from to Other",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:53:26.972935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTOR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:52:03.338884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS7 as ready",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:52:03.328661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs7 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:51:55.728191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:51:34.515487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS7 were set to ",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:51:15.753935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:50:39.027276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA1 as ready",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:50:39.015284+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa1 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:50:34.236018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA1 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:50:22.410195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA1 were set to ",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:49:51.756943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA1 as ready",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:49:51.744297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:49:40.878391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:49:20.388788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA1 were set to ",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:48:59.592779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:47:44.719209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO5A as ready",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:47:44.706065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo5a has been classified as Red List (Low Evidence).",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:47:41.182171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO5A were changed from GRISCELLI SYNDROME TYPE 3; ELEJALDE SYNDROME to Griscelli syndrome, type 1 MIM#214450",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:47:27.921820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO5A were set to ",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:46:58.507891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO5A as ready",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:46:58.495531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo5a has been classified as Green List (High Evidence).",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:46:50.491647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO5A were changed from to Griscelli syndrome, type 1 MIM#214450",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:46:22.879126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYO5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:46:07.881257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO5A were set to ",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:44:28.074567+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP2 as ready",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:44:28.063523+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp2 has been classified as Red List (Low Evidence).",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:44:24.093563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LTBP2 were changed from MICROSPHEROPHAKIA; PRIMARY CONGENITAL GLAUCOMA TYPE 3D to Glaucoma 3, primary congenital, D 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:44:11.439107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LTBP2 were set to ",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:43:36.924798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTO1 were set to ",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:42:46.172157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRPPRC as ready",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:42:46.160314+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:42:38.780688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRPPRC were changed from LEIGH SYNDROME, FRENCH-CANADIAN TYPE to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:42:23.841991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRPPRC were set to ",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:42:12.080241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRPPRC as Amber List (moderate evidence)",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:42:12.070464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:41:23.371931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRPPRC as ready",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:41:23.352634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Green List (High Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:36:09.936824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:35:49.543313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRPPRC were set to ",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:35:28.030993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:35:08.800397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:33:49.184741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPLKIP were set to ",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:33:11.919351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPDU1 were set to ",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:32:26.749100+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOCS1 were set to ",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:31:54.775137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MNX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:31:15.868413+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMP21 were set to ",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:29:53.381981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLYCD were set to ",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:27:46.611549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD1 as ready",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:27:46.600430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:27:42.648534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD1 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:27:29.703580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMOD1 were set to ",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:27:17.975222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMOD1 as Amber List (moderate evidence)",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:27:17.960906+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:26:22.498303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEMD3 as ready",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:26:22.487748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lemd3 has been classified as Red List (Low Evidence).",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-02-02T09:26:18.980318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEMD3 were changed from BUSCHKE-OLLENDORFF SYNDROME; MELORHEOSTOSIS to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700",
"entity_name": "LEMD3",
"entity_type": "gene"
}
]
}