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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1242",
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"results": [
{
"created": "2021-08-12T18:29:12.823802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT3 were set to ",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:28:53.598917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:28:35.512940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17881745, 14566054, 25349174, 25038750, 25359994; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:28:28.189852+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT3 were set to ",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:27:41.512051+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STAT3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T18:27:20.084138+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:28:23.660478+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.92",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25349174, 25038750, 25359994, 16783372; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952, Lymphoproliferation, solid organ autoimmunity, recurrent infections, short stature, eczema, delayed puberty, dental abnormalities, autoimmune interstitial lung disease, juvenile-onset arthritis, primary hypothyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:24:12.958918+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK4 as ready",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:24:12.947591+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk4 has been classified as Green List (High Evidence).",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:24:06.389182+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STK4 as Green List (high evidence)",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:24:06.378652+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk4 has been classified as Green List (High Evidence).",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:23:15.977088+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:23:15.965999+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:23:12.362703+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT3 were changed from to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:22:30.970293+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT3 were set to ",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:22:00.820025+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STAT3 was changed from to Other",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:21:29.862847+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:19:57.498360+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK4 as ready",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:19:57.487535+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk4 has been classified as Green List (High Evidence).",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:19:54.638514+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK4 were changed from to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868; CD4/CD8 lymphopaenia; cardiac malformations; reduced naïve T cells; increased TEM and TEMRA cells; poor T cell Proliferation; Reduced memory B cells; Reduced IgM, increased IgG, IgA, IgE; impaired antibody responses; intermittent neutropaenia; bacterial/ viral/ fungal infections; autoimmune cytopaenias; mucocutaneous candidiasis; cutaneous warts",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:18:44.763437+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.124",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: STK4 was added\ngene: STK4 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854\nPhenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868; CD4/CD8 lymphopaenia; cardiac malformations; reduced naïve T cells; increased TEM and TEMRA cells; poor T cell Proliferation; Reduced memory B cells; Reduced IgM, increased IgG, IgA, IgE; impaired antibody responses; intermittent neutropaenia; bacterial/ viral/ fungal infections; autoimmune cytopaenias; mucocutaneous candidiasis; cutaneous warts\nReview for gene: STK4 was set to GREEN\nAdded comment: 12 individuals from 5 unrelated families have been reported with STK4 deficiency; two mouse model.\r\n\r\nHomozygous and compound heterozygous (deletion, missense and nonsense) variants have been identified, resulting in premature stop codons and reduced protein.\r\n\r\nAll individuals displayed a similar immunological phenotype, characterised by naive CD4+ and CD8+ T-cell lymphopaenia in particular. Other typical features included cardiac malformations, recurrent bacterial/viral infections, mucocutaneous candidiasis and cutaneous warts. \nSources: Literature",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:18:20.055486+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STK4 were set to ",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:17:55.371268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK4 as ready",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:17:55.358441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk4 has been classified as Green List (High Evidence).",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:17:42.681232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK4 were changed from to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868; CD4/CD8 lymphopaenia; cardiac malformations; reduced naïve T cells; increased TEM and TEMRA cells; poor T cell Proliferation; Reduced memory B cells; Reduced IgM, increased IgG, IgA, IgE; impaired antibody responses; intermittent neutropaenia; bacterial/ viral/ fungal infections; autoimmune cytopaenias; mucocutaneous candidiasis; cutaneous warts",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:17:18.385978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STK4 were set to ",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:16:37.445945+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STK4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:16:33.211497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:16:22.288554+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:14:15.298831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP110 as ready",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:14:15.289632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp110 has been classified as Green List (High Evidence).",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:14:00.590781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SP110.",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:13:44.940775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SP110 were changed from to Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Hepatic veno-occlusive disease; susceptibility to Pneumocystis jirovecii pneumonia; cytomegalovirus; thrombocytopaenia; hepatosplenomegaly; cerebrospinal leukodystrophy; memory T/B cell deficiency; low Ig levels; absent tissue plasma cells; absent lymph node germinal centers; hypogammaglobulinaemia",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:13:14.275064+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SP110 were set to ",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:12:59.374371+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPINK5 as ready",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:12:59.365159+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spink5 has been classified as Green List (High Evidence).",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:12:56.762400+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPINK5 were changed from to Netherton syndrome MIM# 256500; Low switched and non-switched B cells; High IgE and IgA; Antibody variably decreased; Congenital ichthyosis; bamboo hair; atopic diathesis; increased bacterial infections; failure to thrive; food allergies",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:12:32.563637+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPINK5 were set to ",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:12:07.980627+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:11:17.085474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SP110 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:10:47.502608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAL1 as ready",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:10:47.492918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:10:44.198062+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SP110 as ready",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:10:44.187420+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sp110 has been classified as Green List (High Evidence).",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:10:40.535431+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SP110 were changed from to Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Hepatic veno-occlusive disease; susceptibility to Pneumocystis jirovecii pneumonia; cytomegalovirus; thrombocytopaenia; hepatosplenomegaly; cerebrospinal leukodystrophy; memory T/B cell deficiency; low Ig levels; absent tissue plasma cells; absent lymph node germinal centers; hypogammaglobulinaemia",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:10:06.979110+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SP110.",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:09:59.865222+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SP110 were set to ",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:09:35.169531+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SP110 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:57.126190+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAL1 as ready",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:57.113824+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:54.616700+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from to Schimke immune-osseous dysplasia MIM# 242900; T cell deficiency; Short stature; spondyloepiphyseal dysplasia; renal dysfunction; lymphocytopaenia; nephropathy; bacterial/viral/fungal infections; may present as SCID; bone marrow failure",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:53.834051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from to Schimke immune-osseous dysplasia MIM# 242900; T cell deficiency; Short stature; spondyloepiphyseal dysplasia; renal dysfunction; lymphocytopaenia; nephropathy; bacterial/viral/fungal infections; may present as SCID; bone marrow failure",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:33.444202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCAL1 were set to ",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:31.259230+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCAL1 were set to ",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:27.639453+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1165",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC46A1 were set to 20301716\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary MIM# 229050; Decreased Ig levels; megaloblastic anaemia; failure to thrive; Immunodeficiency; if untreated for prolonged periods results in intellectual disability; oral mucositis; hypoimmunoglobulinaemia; recurrent infections; seizures; motor impairment; leukopaenia; thrombocytopaenia\nReview for gene: SLC46A1 was set to GREEN\nAdded comment: ver 30 unrelated individuals reported with variants in SLC46A1 presenting with hereditary folate malabsorption; two mouse model.\r\n\r\nIn-frame deletion variant has been commonly reported among individuals of Puerto Rican heritage: c.1082-1G>A;\r\nOther variants include homozygous and compound heterozygous deletions, insertion, missense and nonsense report in individuals of other origins (Chinese, Moroccan, Turkish, African American).\r\n\r\nClinically presents in infancy with failure to thrive, recurrent diarrhoea, anaemia, recurrent infections and, frequently, seizures. \nSources: Literature",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:07:13.807752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:06:54.912283+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:05:06.166486+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:05:06.155758+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:05:03.824788+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC46A1 were changed from to Folate malabsorption, hereditary MIM# 229050; Decreased Ig levels; megaloblastic anaemia; failure to thrive; Immunodeficiency; if untreated for prolonged periods results in intellectual disability; oral mucositis; hypoimmunoglobulinaemia; recurrent infections; seizures; motor impairment; leukopaenia; thrombocytopaenia",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:04:45.088122+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC46A1 were set to ",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:04:22.852299+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC46A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T16:03:27.546836+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SLC46A1.",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:28:20.337831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868, CD4/CD8 lymphopaenia, cardiac malformations, reduced naïve T cells, increased TEM and TEMRA cells, poor T cell Proliferation, Reduced memory B cells, Reduced IgM, increased IgG, IgA, IgE, impaired antibody responses, intermittent neutropaenia, bacterial/ viral/ fungal infections, autoimmune cytopaenias, mucocutaneous candidiasis, cutaneous warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:26:19.704908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SPINK5: Rating: ; Mode of pathogenicity: None; Publications: 33534181, 20657595; Phenotypes: Netherton syndrome MIM# 256500, Low switched and non-switched B cells, High IgE and IgA, Antibody variably decreased, Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive, food allergies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:24:43.480777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 31721003; Phenotypes: Hepatic veno-occlusive disease with immunodeficiency MIM#235550, Hepatic veno-occlusive disease, susceptibility to Pneumocystis jirovecii pneumonia, cytomegalovirus, thrombocytopaenia, hepatosplenomegaly, cerebrospinal leukodystrophy, memory T/B cell deficiency, low Ig levels, absent tissue plasma cells, absent lymph node germinal centers, hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SP110",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:23:11.636312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301550, 17089404, 20036229; Phenotypes: Schimke immune-osseous dysplasia MIM# 242900, T cell deficiency, Short stature, spondyloepiphyseal dysplasia, renal dysfunction, lymphocytopaenia, nephropathy, bacterial/viral/fungal infections, may present as SCID, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:14:53.478597+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "changed review comment from: Well-established disease-gene association for hyper-IgE syndrome; identified heterozygous STAT3 variants in over 50 familial and sporadic cases; dominant-negative loss of function; multiple mouse models\r\n\r\nHyper IgE individuals presented with the triad of staphylococcal abscesses, pneumonia with pneumatocele formation, and extremely elevated IgE. \r\n\r\n\r\n15 unrelated families with Autoimmune disease, multisystem, infantile-onset, 1; 13 STAT3 variants identified (5 were de novo); gain of function; multiple mouse models\r\n\r\nAutoimmune disease, multisystem, infantile-onset, 1 individuals exhibited various clinical features, with most presenting with lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, infections, and short stature.\r\n \r\nSTAT3 monoallelic variants were missense and in-frame deletions in both diseases.\r\n\r\n(Hyper IgE- Loss of Function AND Autoimmune disease- Gain of function); to: Well-established disease-gene association for hyper-IgE syndrome; identified heterozygous STAT3 variants in over 50 familial and sporadic cases; dominant-negative loss of function; multiple mouse models\r\n\r\nHyper IgE individuals presented with the triad of staphylococcal abscesses, pneumonia with pneumatocele formation, and extremely elevated IgE. \r\n\r\n15 unrelated families with Autoimmune disease, multisystem, infantile-onset, 1; 13 STAT3 variants identified (5 were de novo); gain of function; multiple mouse models\r\n\r\nAutoimmune disease, multisystem, infantile-onset, 1 individuals exhibited various clinical features, with most presenting with lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, infections, and short stature.\r\n \r\nSTAT3 monoallelic variants were missense and in-frame deletions in both diseases.\r\n\r\n(Hyper IgE- Loss of Function AND Autoimmune disease- Gain of function)",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:14:21.776178+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17881745, 14566054, 25349174, 25038750, 25359994; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:10:14.502415+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:09:20.947261+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "edited their review of gene: STAT3: Added comment: 18 individuals from 15 unrelated families; Multiple mouse models\r\n\r\nAll 13 heterozygous variants reported have been missense or in-frame deletions that result in a gain of function; 5 of these de novo\r\n\r\nIndividuals exhibited various clinical features, with most presenting with lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, infections, and short stature.; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 25349174, 25038750, 25359994, 16783372; Changed phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952, Lymphoproliferation, solid organ autoimmunity, recurrent infections, short stature, eczema, delayed puberty, dental abnormalities, autoimmune cytopaenias, juvenile-onset arthritis, primary hypothyroidism",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T15:07:12.061812+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17881745, 14566054, 15194489; Phenotypes: Hyper-IgE recurrent infection syndrome MIM# 147060, NKT cells decreased, Very high IgE, specific antibody production decreased, Distinctive facial features (broad nasal bridge), bacterial infections, staphylococcal abscesses, eczema, mucocutaneous candidiasis, hyperextensible joints, osteoporosis and bone fractures, scoliosis, retained primary teeth, coronary and cerebral aneurysms; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:49:22.234674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR68 as ready",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:49:22.223961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr68 has been classified as Green List (High Evidence).",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:49:10.558119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR68 were changed from to Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:48:38.152126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR68 were set to ",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:48:17.609726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPR68 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:47:58.566885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPR68: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693231, 32279993; Phenotypes: Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:46:52.828559+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR68 as ready",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:46:52.818249+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr68 has been classified as Green List (High Evidence).",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:46:50.628579+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR68 were changed from Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 to Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:46:38.993715+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR68 were set to 27693231",
"entity_name": "GPR68",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:43:10.276303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM83H as ready",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:43:10.267093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam83h has been classified as Green List (High Evidence).",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:43:02.506267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM83H were changed from to Amelogenesis imperfecta, type IIIA MIM#130900",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:42:27.991086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM83H were set to ",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:42:00.261044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM83H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:41:44.271635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM83H: Rating: GREEN; Mode of pathogenicity: None; Publications: 18484629, 19407157, 19825039, 26481691, 21702852, 20160442, 26142250, 22414746, 19828885, 19220331, 26502894, 18252228, 21597265, 21118793, 26788537, 26171361; Phenotypes: Amelogenesis imperfecta, type IIIA MIM#130900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:41:24.521810+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:40:53.778881+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM83H as ready",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:40:53.768851+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam83h has been classified as Green List (High Evidence).",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:40:51.844124+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM83H were changed from Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI to Amelogenesis imperfecta, type IIIA MIM#130900",
"entity_name": "FAM83H",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:40:14.440762+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:40:14.430410+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:40:11.983976+10:00",
"panel_name": "Amelogenesis imperfecta",
"panel_id": 3564,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM20C were changed from hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775 to Raine syndrome MIM#259775; hypoplastic Amelogenesis Imperfecta",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:26:00.937424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENAM as ready",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:26:00.926504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enam has been classified as Green List (High Evidence).",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:25:44.572121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENAM were changed from to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:25:26.149760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENAM were set to ",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2021-08-12T14:25:06.260354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ENAM",
"entity_type": "gene"
}
]
}