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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1998",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1996",
"results": [
{
"created": "2020-01-09T08:25:18.269408+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc21 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:24:22.853305+11:00",
"panel_name": "Bone Marrow Failure_VCGS",
"panel_id": 56,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC21 was added\ngene: DNAJC21 was added to Bone Marrow Failure_VCGS. Sources: Expert list\nMode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC21 were set to 29700810; 28062395; 27346687\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM#\t617052\nReview for gene: DNAJC21 was set to GREEN\nAdded comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies. \nSources: Expert list",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:18:28.900568+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDCA7 as ready",
"entity_name": "CDCA7",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:18:28.893716+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdca7 has been classified as Green List (High Evidence).",
"entity_name": "CDCA7",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:18:22.564935+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDCA7 as Green List (high evidence)",
"entity_name": "CDCA7",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:18:22.557999+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdca7 has been classified as Green List (High Evidence).",
"entity_name": "CDCA7",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:17:53.253311+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDCA7 was added\ngene: CDCA7 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDCA7 were set to 26216346\nPhenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#\t616910\nReview for gene: CDCA7 was set to GREEN\nAdded comment: Five patients from four unrelated families; presents with recurrent infections in childhood, dysmorphic features and ID variable. \nSources: Expert list",
"entity_name": "CDCA7",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:14:05.937140+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD70 as ready",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:14:05.929980+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd70 has been classified as Green List (High Evidence).",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:13:02.005300+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD70 as Green List (high evidence)",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:13:01.991864+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd70 has been classified as Green List (High Evidence).",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:12:33.318258+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD70 was added\ngene: CD70 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD70 were set to 28011864; 28011863\nPhenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM#\t618261\nReview for gene: CD70 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:09:21.010684+11:00",
"panel_name": "Complement deficiencies_MelbourneGenomics_VCGS",
"panel_id": 224,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD55 as ready",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:09:21.003734+11:00",
"panel_name": "Complement deficiencies_MelbourneGenomics_VCGS",
"panel_id": 224,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd55 has been classified as Green List (High Evidence).",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:09:17.027857+11:00",
"panel_name": "Complement deficiencies_MelbourneGenomics_VCGS",
"panel_id": 224,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD55 as Green List (high evidence)",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:09:17.021157+11:00",
"panel_name": "Complement deficiencies_MelbourneGenomics_VCGS",
"panel_id": 224,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd55 has been classified as Green List (High Evidence).",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:08:48.392044+11:00",
"panel_name": "Complement deficiencies_MelbourneGenomics_VCGS",
"panel_id": 224,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD55 was added\ngene: CD55 was added to Complement deficiencies_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD55 were set to 28657829; 28657861\nPhenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM#\t226300\nReview for gene: CD55 was set to GREEN\nAdded comment: Nine families reported. \nSources: Expert list",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:06:15.130413+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40 as ready",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:06:15.123289+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40 has been classified as Green List (High Evidence).",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:06:09.614486+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD40 as Green List (high evidence)",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:06:09.606118+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40 has been classified as Green List (High Evidence).",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2020-01-09T08:05:39.132192+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD40 was added\ngene: CD40 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD40 were set to 11675497; 12915844\nPhenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM#\t606843\nReview for gene: CD40 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:43:26.671575+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARMIL2 as ready",
"entity_name": "CARMIL2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:43:26.660214+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: carmil2 has been classified as Green List (High Evidence).",
"entity_name": "CARMIL2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:43:03.257578+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CARMIL2 as Green List (high evidence)",
"entity_name": "CARMIL2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:43:03.246175+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: carmil2 has been classified as Green List (High Evidence).",
"entity_name": "CARMIL2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:42:26.366086+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARMIL2 was added\ngene: CARMIL2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARMIL2 were set to 29479355; 28112205; 27896283\nPhenotypes for gene: CARMIL2 were set to Immunodeficiency 58, MIM#\t618131\nReview for gene: CARMIL2 was set to GREEN\nAdded comment: Eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses; inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Effective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired \nSources: Expert list",
"entity_name": "CARMIL2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:37:30.378659+11:00",
"panel_name": "Inflammatory bowel disease_VCGS",
"panel_id": 123,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BACH2 as ready",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:37:30.367010+11:00",
"panel_name": "Inflammatory bowel disease_VCGS",
"panel_id": 123,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bach2 has been classified as Green List (High Evidence).",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:37:22.997909+11:00",
"panel_name": "Inflammatory bowel disease_VCGS",
"panel_id": 123,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BACH2 as Green List (high evidence)",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:37:22.984934+11:00",
"panel_name": "Inflammatory bowel disease_VCGS",
"panel_id": 123,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bach2 has been classified as Green List (High Evidence).",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:36:45.907876+11:00",
"panel_name": "Inflammatory bowel disease_VCGS",
"panel_id": 123,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BACH2 was added\ngene: BACH2 was added to Inflammatory bowel disease_VCGS. Sources: Expert list\nMode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BACH2 were set to 28530713\nPhenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM#\t618394; inflammatory bowel disease; recurrent sinopulmonary infections\nReview for gene: BACH2 was set to GREEN\nAdded comment: Two families and a mouse model. \nSources: Expert list",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:35:00.878099+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BACH2 as ready",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:35:00.866171+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bach2 has been classified as Green List (High Evidence).",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:34:56.426347+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BACH2 as Green List (high evidence)",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:34:56.411533+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bach2 has been classified as Green List (High Evidence).",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T17:33:59.746145+11:00",
"panel_name": "Disorders of immune dysregulation_MelbourneGenomics_VCGS",
"panel_id": 229,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BACH2 was added\ngene: BACH2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BACH2 were set to 28530713\nPhenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM#\t618394; inflammatory bowel disease; recurrent sinopulmonary infections\nReview for gene: BACH2 was set to GREEN\nAdded comment: Two families and a mouse model. \nSources: Expert list",
"entity_name": "BACH2",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:42:50.932227+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHM as ready",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:42:50.921143+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:42:40.795366+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHM as Green List (high evidence)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:42:40.782988+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:42:21.882350+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHM was added\ngene: IGHM was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGHM were set to 12370281; 8890099\nPhenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM#\t601495\nReview for gene: IGHM was set to GREEN\nAdded comment: Multiple families reported; please note a 40kb deletion as well as SNVs. \nSources: Expert list",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:32:59.424390+11:00",
"panel_name": "Defects of innate immunity_MelbourneGenomics_VCGS",
"panel_id": 231,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPSA as ready",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:32:59.411821+11:00",
"panel_name": "Defects of innate immunity_MelbourneGenomics_VCGS",
"panel_id": 231,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpsa has been classified as Green List (High Evidence).",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:31:44.491999+11:00",
"panel_name": "Defects of innate immunity_MelbourneGenomics_VCGS",
"panel_id": 231,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital, MIM# 271400",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:31:15.555811+11:00",
"panel_name": "Defects of innate immunity_MelbourneGenomics_VCGS",
"panel_id": 231,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPSA were set to ",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:30:41.132047+11:00",
"panel_name": "Defects of innate immunity_MelbourneGenomics_VCGS",
"panel_id": 231,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:29:56.616113+11:00",
"panel_name": "Defects of innate immunity_MelbourneGenomics_VCGS",
"panel_id": 231,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497; Phenotypes: Asplenia, isolated congenital, MIM# 271400; Mode of inheritance: None",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:27:17.506831+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSN as ready",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:27:17.495688+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msn has been classified as Green List (High Evidence).",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:26:28.405906+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSN as Green List (high evidence)",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:26:28.394727+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msn has been classified as Green List (High Evidence).",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:25:50.868388+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSN was added\ngene: MSN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MSN were set to 27405666\nPhenotypes for gene: MSN were set to Immunodeficiency 50, MIM#\t300988\nReview for gene: MSN was set to GREEN\nAdded comment: Seven males from five unrelated families reported. \nSources: Expert list",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:21:08.417235+11:00",
"panel_name": "Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS",
"panel_id": 235,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAT as ready",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:21:08.404576+11:00",
"panel_name": "Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS",
"panel_id": 235,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:21:04.281318+11:00",
"panel_name": "Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS",
"panel_id": 235,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAT as Green List (high evidence)",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:21:04.268381+11:00",
"panel_name": "Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS",
"panel_id": 235,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lat has been classified as Green List (High Evidence).",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:20:26.127670+11:00",
"panel_name": "Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS",
"panel_id": 235,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAT was added\ngene: LAT was added to Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAT were set to 27522155; 27242165; 10204488\nPhenotypes for gene: LAT were set to Immunodeficiency 52, MIM#\t617514\nReview for gene: LAT was set to GREEN\nAdded comment: At least two families and good functional data. \nSources: Expert list",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:16:15.826072+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHM as ready",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:16:15.814464+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:16:11.305932+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHM as Green List (high evidence)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:16:11.293257+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighm has been classified as Green List (High Evidence).",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T12:15:33.401964+11:00",
"panel_name": "Predominantly antibody deficiency_MelbourneGenomics_VCGS",
"panel_id": 222,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHM was added\ngene: IGHM was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGHM were set to 12370281; 8890099\nPhenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM#\t601495\nReview for gene: IGHM was set to GREEN\nAdded comment: Multiple families reported; please note a 40kb deletion as well as SNVs. \nSources: Expert list",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:42:46.288390+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARPC1B as Green List (high evidence)",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:42:46.279267+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:42:45.967026+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARPC1B as ready",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:42:45.957815+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:40:30.920526+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARPC1B as Green List (high evidence)",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:40:30.910011+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:39:58.220538+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARPC1B as Green List (high evidence)",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:39:58.210417+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T11:37:46.831680+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARPC1B was added\ngene: ARPC1B was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC1B were set to 28368018\nPhenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease\t617718\nReview for gene: ARPC1B was set to GREEN\nAdded comment: Three patients from two families with functional data. \nSources: Expert list",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:06:35.676486+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANGPTL6 as ready",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:06:35.668553+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angptl6 has been classified as Red List (Low Evidence).",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:06:27.793584+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANGPTL6 were changed from to Cerebral aneurysm",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:06:12.371706+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANGPTL6 were set to ",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:05:50.546298+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANGPTL6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:05:30.784588+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANGPTL6 as Red List (low evidence)",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:05:30.777743+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angptl6 has been classified as Red List (Low Evidence).",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T10:05:11.590874+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANGPTL6: Rating: RED; Mode of pathogenicity: None; Publications: 29304371; Phenotypes: Cerebral aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANGPTL6",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:43:35.104467+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:43:35.098176+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Red List (Low Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:43:04.044226+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB34 as Red List (low evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:43:04.021000+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Red List (Low Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:42:25.788810+11:00",
"panel_name": "Macrocephaly/Megalencephaly_VCGS",
"panel_id": 135,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:27:27.498860+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RANBP17 as ready",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:27:27.492592+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp17 has been classified as Red List (Low Evidence).",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:27:19.284892+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RANBP17 as Red List (low evidence)",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:27:19.262858+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp17 has been classified as Red List (Low Evidence).",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-01-08T09:26:41.999899+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RANBP17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RANBP17",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:56:14.723250+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM#\t618426; epileptic encephalopathy; developmental regression; microcephaly",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:06:29.997467+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.54",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: NUP214 was added\ngene: NUP214 was added to Regression_VCGS. Sources: Literature\nMode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP214 were set to 31178128\nPhenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly\nReview for gene: NUP214 was set to GREEN\ngene: NUP214 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:04:21.576641+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.710",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: NUP214 as Green List (high evidence)",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:04:21.567718+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.710",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:03:58.986406+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.709",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: NUP214 was added\ngene: NUP214 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP214 were set to 31178128\nPhenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly\nPenetrance for gene: NUP214 were set to Complete\nReview for gene: NUP214 was set to GREEN\ngene: NUP214 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:00:38.516302+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1525",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: NUP214 as ready",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:00:38.509902+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1525",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:00:31.496081+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1525",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: NUP214 as Green List (high evidence)",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:00:31.489698+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1525",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-01-07T21:00:14.288593+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1524",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: NUP214 was added\ngene: NUP214 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP214 were set to 31178128\nPhenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly\nPenetrance for gene: NUP214 were set to Complete\nReview for gene: NUP214 was set to GREEN\ngene: NUP214 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "NUP214",
"entity_type": "gene"
}
]
}