HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=925",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=923",
"results": [
{
"created": "2022-03-21T17:57:59.825642+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:57:30.155643+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS3 were set to ",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:56:19.300771+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:49:07.715513+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS3 as ready",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:49:07.705456+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:49:03.350189+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS3 as Amber List (moderate evidence)",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:49:03.339108+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:48:25.983997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:47:10.601638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: USH2A: Added comment: Well established gene-disease association - Usher syndrome, DEFINITIVE by ClinGen.\r\n\r\nPMID 20507924: Screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States.\r\n\r\nhttps://www.ncbi.nlm.nih.gov/books/NBK1341/, PMID 17296898, ClinVar\r\nReports of cosegregation of Usher Syndrome and Retinitis Pigmentosa; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:44:59.027310+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: USH2A: Rating: ; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Usher syndrome, type 2A, MIM# 276901, Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:39:25.551106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C4A as ready",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:39:25.539101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:30:48.459884+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.439",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 27290639, 28429146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:25:07.636985+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.1",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8673107, 11121146, 11038186; Phenotypes: Vohwinkel syndrome with ichthyosis (MIM#604117); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:19:24.937832+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.398",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS6: Rating: RED; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:18:48.615876+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.740",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:17:55.788208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:03:31.173716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS2 as ready",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:03:31.161434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:03:22.529306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:03:01.293569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS2 were set to ",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:02:39.173319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:02:07.242558+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS2 as ready",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:02:07.227620+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:01:16.799419+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:00:31.768249+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS2 were set to ",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:59:51.096070+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:57:15.576954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11677",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 12588794, 21044053; Phenotypes: Usher syndrome, type 1G, MIM# 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:57:07.375561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4A: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:44.381011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:35.373576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C4A were set to ",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:29.724595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:24.917203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C4A as Amber List (moderate evidence)",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:24.904800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:15.205630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: C4A.",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:00.782249+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS2 as ready",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:56:00.766913+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:55:57.564720+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:55:23.492306+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS2 were set to ",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:55:02.084411+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.68",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4A: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:54:53.695223+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:54:27.047374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:54:23.477079+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS2 as Red List (low evidence)",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:54:23.465569+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:54:13.129441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).\r\nThis is mostly involving haplotypes, gene copy number, gene conversions with/without C4B; to: Associated with increased risk for systemic lupus erythematosus (SLE).\r\nThis is mostly involving haplotypes, gene copy number, gene conversions with/without C4B\r\n\r\nThere are no LP/P SNV in clinvar \r\n\r\nPMID: 32048120; 2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:54:10.765506+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.68",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4A was changed from Other to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:53:44.787848+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS2 as ready",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:53:44.774891+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:53:41.702812+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:53:03.628071+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS2 were set to ",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:52:34.189757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:52:20.278931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092, ?Non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:52:17.876735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C4B as ready",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:52:17.866851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c4b has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:52:10.074255+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: C4B.",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:51.380734+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:45.296414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C4B as ready",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:45.286885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c4b has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:38.476191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C4B were changed from susceptibility to autoimmune disease; C4B deficiency MIM#614379 to susceptibility to autoimmune disease; C4B deficiency MIM#614379",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:33.834064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:16.663767+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.67",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:12.239118+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:11.037835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C4B were set to 34764957; 12626442; 22387014; 17503323; 32048120",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:51:00.233809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C4B were set to ",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:50:37.753021+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:50:23.997206+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS2 as ready",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:50:23.986356+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:50:16.902239+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS2 as Green List (high evidence)",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:50:16.891320+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:49:20.066632+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:49:07.799569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4B was changed from Unknown to Other",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:48:57.868344+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:48:57.857010+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:48:24.990052+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:47:46.142540+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:47:15.395859+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to 33751534; 24952175; 20382551; 21203893; 20797884; 15824269; 25615419; 11349233; 22399432",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:46:53.900118+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:46:43.811858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11669",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic (MIM#263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:45:42.273707+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:45:42.269007+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4A was changed from Other to Other",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:45:14.028919+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:44:36.067216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C4B as Amber List (moderate evidence)",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:44:36.056895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c4b has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:44:28.601339+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:44:25.957566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: C4B.",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:44:13.521948+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:44:01.428869+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4A was changed from Other to Other",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:43:46.011442+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: C4A.",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:43:34.929082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).\r\nThis is mostly involving haplotypes, gene copy number, gene conversions with/without C4A; to: Associated with increased risk for systemic lupus erythematosus (SLE).\r\nThis is mostly involving haplotypes, gene copy number, gene conversions with/without C4A\r\n\r\nno LP/P SNVs in clinvar. (1 LP but evidence provided indicates that it was classified as a VUS)\r\n\r\nPMID: 32048120;\r\n2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency\r\n",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:43:13.223173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4B: Changed rating: AMBER; Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:43:00.744123+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:42:52.415660+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:42:34.393642+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:42:34.382945+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:42:03.546962+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C4A were set to ",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:41:54.187385+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:41:00.914286+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4A was changed from Unknown to Other",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:40:57.557997+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:39:58.305615+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C4A as Amber List (moderate evidence)",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:39:58.296379+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C4A",
"entity_type": "gene"
}
]
}