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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1246",
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"results": [
{
"created": "2021-08-10T15:10:56.236411+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9118943, 32875002, 11258423; Phenotypes: Bare lymphocyte syndrome, type II, complementation group D MIM# 209920, Low CD4+ T cells, reduced MHC II expression on lymphocytes, Normal-low Ig levels, Failure to thrive, respiratory/gastrointestinal infections, liver/biliary tract disease, diarrhoea, Severe autoimmune cytopaenia, agammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T14:07:54.225273+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.120",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21127202; Phenotypes: Ebstein anomaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T12:35:32.886146+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618906; Phenotypes: MHC class II deficiency, complementation group B MIM# 209920, Bare Lymphocyte Syndrome, type II, complementation group B, Low CD4+ T cells, reduced MHC II expression on lymphocytes, Normal-low Ig levels, Failure to thrive, respiratory/gastrointestinal infections, liver/biliary tract disease, diarrhoea, Severe autoimmune cytopaenia, agammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T10:36:10.553729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8713",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29260357, 29695863; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895, muscular weakness, cardiomyopathy, recurrent bacterial/viral infections, autoinflammation, immunodeficiency, Poor antibody responses to polysaccharides, failure to thrive, fever, pneumonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T10:35:31.593807+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29260357, 29695863; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895, muscular weakness, cardiomyopathy, recurrent bacterial/viral infections, autoinflammation, immunodeficiency, Poor antibody responses to polysaccharides, failure to thrive, fever, pneumonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T10:29:33.724886+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22132981, 9122228, 10859343; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179, Autoimmune hemolytic anaemia, neurological impairment, SCID, CID, hypouricaemia, failure to thrive, chronic diarrhoea, recurrent respiratory/ gastrointestinal infections, normal-low Ig levels, spastic paresis, tremor, ataxia, DD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2021-08-10T08:56:01.706129+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.291",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301779, 18523010; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MIM# 613987, Shortened telomeres, Leukoplakia, Nail dystrophy, Bone marrow failure, Pancytopaenia, reticulate skin pigmentation, Thrombocytopaenia, recurrent opportunistic infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:08:49.064350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC2 as ready",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:08:49.051282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc2 has been classified as Green List (High Evidence).",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:08:37.386648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC2 were changed from to Dubin-Johnson syndrome, MIM# 237500",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:08:19.046020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:08:00.233302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:07:27.690446+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC2 as ready",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:07:27.679214+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc2 has been classified as Green List (High Evidence).",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:07:21.167234+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC2 were changed from to Dubin-Johnson syndrome, MIM# 237500",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:06:50.594115+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T21:06:21.373939+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:56:03.820997+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CLDN9 were set to 31175426; 19696885",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:53:12.913852+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLDN9 as Green List (high evidence)",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:53:12.904229+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.86",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cldn9 has been classified as Green List (High Evidence).",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:52:46.628949+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.85",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CLDN9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19696885, 31175426, 34265170; Phenotypes: Deafness, autosomal recessive 116, MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:48:57.186400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8711",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CLDN9 were set to 31175426; 19696885",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:47:22.979502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8710",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLDN9 as Green List (high evidence)",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:47:22.968557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8710",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cldn9 has been classified as Green List (High Evidence).",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:46:46.069977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CLDN9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19696885, 31175426, 34265170; Phenotypes: Deafness, autosomal recessive 116 MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN9",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:34:40.902920+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR1 as ready",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:34:40.893164+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Green List (High Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:34:36.508521+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR1 were changed from to Johanson-Blizzard syndrome (MIM#243800)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:34:07.976153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR1 were set to ",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:33:29.135328+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:31:17.679756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: >50 unrelated families reported, reviewed in PMID: 24599544.\r\n\r\nCommon clinical features include poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency.; to: >50 unrelated families reported, reviewed in PMID: 24599544.\r\n\r\nCommon clinical features include poor growth, intellectual disability, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency.",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:31:02.169619+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: >50 unrelated families reported, reviewed in PMID: 24599544. Common clinical features include poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency.; to: >50 unrelated families reported, reviewed in PMID: 24599544. Common clinical features include poor growth, intellectual disability, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency.",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:30:44.072836+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544; Phenotypes: Johanson-Blizzard syndrome (MIM#243800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:28:07.331305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR1 as ready",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:28:07.321604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Green List (High Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:27:53.581575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR1 were changed from to Johanson-Blizzard syndrome (MIM#243800)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:27:30.913506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR1 were set to ",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:27:13.163576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:26:54.670949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544; Phenotypes: Johanson-Blizzard syndrome (MIM#243800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:25:30.277513+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR1 as ready",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:25:30.267599+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Green List (High Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:25:27.235574+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR1 were changed from to Johanson-Blizzard syndrome (MIM#243800)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:24:58.826251+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR1 were set to ",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:24:34.904437+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T18:24:03.656349+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Johanson-Blizzard syndrome (MIM#243800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T17:13:17.034622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTL6A as ready",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T17:13:17.024926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actl6a has been classified as Green List (High Evidence).",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T17:13:06.674268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTL6A were changed from to Intellectual disability",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T17:12:45.770710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTL6A were set to ",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:50:47.669495+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.117",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24599544; Phenotypes: Johanson-Blizzard syndrome (MIM#243800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:16:01.620969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTL6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:15:44.802436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals from unrelated families reported with missense variants in this gene. Part of the BAF complex. Only one confirmed de novo.; to: Two individuals from unrelated families reported with missense variants in this gene, and one with a splice-site variant. Part of the BAF complex. Only one missense confirmed de novo, pathogenicity of the other variant uncertain.\r\nPMID 31994175: fourth individual reported, recurrent de novo p.Arg377Trp",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:15:31.000136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTL6A: Changed publications: 28649782, 31994175",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:14:34.087929+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals from unrelated families reported with missense variants in this gene, and one with a splice-site variant. Part of the BAF complex. Only one missense confirmed de novo, pathogenicity of the other variant uncertain.; to: Two individuals from unrelated families reported with missense variants in this gene, and one with a splice-site variant. Part of the BAF complex. Only one missense confirmed de novo, pathogenicity of the other variant uncertain.\r\nPMID 31994175: fourth individual reported, recurrent de novo p.Arg377Trp",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:14:06.174287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTL6A: Changed publications: 28649782, 31994175",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T15:10:33.608631+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two individuals from unrelated families reported with missense variants in this gene. Part of the BAF complex. Only one confirmed de novo.; to: Two individuals from unrelated families reported with missense variants in this gene, and one with a splice-site variant. Part of the BAF complex. Only one missense confirmed de novo, pathogenicity of the other variant uncertain.",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2021-08-09T12:01:21.605784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAV1 as ready",
"entity_name": "VAV1",
"entity_type": "gene"
},
{
"created": "2021-08-09T12:01:21.595507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vav1 has been classified as Red List (Low Evidence).",
"entity_name": "VAV1",
"entity_type": "gene"
},
{
"created": "2021-08-09T12:01:11.192118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAV1 was added\ngene: VAV1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: VAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VAV1 were set to 20638113; 23058036\nPhenotypes for gene: VAV1 were set to Common variable immnodeficiency\nReview for gene: VAV1 was set to RED\nAdded comment: Reduced VAV1 expression has been reported in multiple T-CVID cases, however only one large deletion (exon 2-27) has been reported in a single case in a publication from 2012. The CNV was detected using real-time qPCR, but was not confirmed by an orthogonal method. \nSources: Expert Review",
"entity_name": "VAV1",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:50:32.085080+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF3 as ready",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:50:32.074615+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf3 has been classified as Green List (High Evidence).",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:50:29.438586+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF3 were changed from to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:50:01.749992+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF3 were set to ",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:49:37.772945+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:49:05.839302+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24216514, 28532655, 30063982, 8001124, 8001125; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:47:58.555019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF3 as ready",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:47:58.546250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf3 has been classified as Green List (High Evidence).",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:47:45.684639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF3 were changed from to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:47:22.469135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF3 were set to ",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:46:52.117641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:46:29.484355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24216514, 28532655, 30063982, 8001124, 8001125; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:38:01.686963+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCD as ready",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:38:01.675786+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcd has been classified as Green List (High Evidence).",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:37:58.342704+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCD were changed from to Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:37:35.061621+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCD were set to ",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:37:03.794288+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:36:37.871211+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23319571, 23666743, 23430113, 11976687, 33047643, 29867916; Phenotypes: Autoimmune lymphoproliferative syndrome, type III, MIM# 615559, CVID 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:35:54.523423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCD as ready",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:35:54.513369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcd has been classified as Green List (High Evidence).",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:35:40.611161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCD were changed from to Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:35:13.605081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCD were set to ",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:34:43.016971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:34:15.047411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23319571, 23666743, 23430113, 11976687, 33047643, 29867916; Phenotypes: Autoimmune lymphoproliferative syndrome, type III, MIM# 615559, CVID 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKCD",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:10:15.925688+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTLA4 as ready",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:10:15.916112+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctla4 has been classified as Green List (High Evidence).",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:10:13.490146+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:09:49.696760+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTLA4 were set to ",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:09:29.775213+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2021-08-09T11:08:56.710795+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25213377, 25329329, 30377434; Phenotypes: Autoimmune lymphoproliferative syndrome, type V, MIM# 616100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTLA4",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:33:32.179318+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD19 as ready",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:33:32.169538+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd19 has been classified as Green List (High Evidence).",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:33:29.371869+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD19 were changed from to Immunodeficiency, common variable, 3, MIM# 613493",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:33:05.812413+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD19 were set to ",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:32:35.281940+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:32:01.999933+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16672701, 17882224, 17882224, 21330302, 21159371; Phenotypes: Immunodeficiency, common variable, 3, MIM# 613493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:31:02.733643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:29:57.088051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD19 as ready",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:29:57.079272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd19 has been classified as Green List (High Evidence).",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:29:47.010302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD19 were changed from to Immunodeficiency, common variable, 3, MIM# 613493",
"entity_name": "CD19",
"entity_type": "gene"
},
{
"created": "2021-08-09T10:29:23.038359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD19 were set to ",
"entity_name": "CD19",
"entity_type": "gene"
}
]
}