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"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=926",
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{
"created": "2022-03-21T16:39:54.877550+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.64",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C4A as ready",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:39:54.866927+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.64",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c4a has been classified as Green List (High Evidence).",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:39:44.596604+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.434",
"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": "2022-03-21T16:39:25.218952+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.64",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4A: Changed rating: AMBER",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:39:20.885351+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.64",
"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": "2022-03-21T16:39:09.320673+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.64",
"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;\r\n2019 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": "2022-03-21T16:38:54.694258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:38:54.684870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11668",
"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": "2022-03-21T16:38:45.283351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11668",
"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": "2022-03-21T16:38:22.165489+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.64",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4B was changed from Other to Other",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:37:57.870635+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"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": "2022-03-21T16:37:35.609896+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C4B were set to ",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:37:12.773079+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C4B was changed from Unknown to Other",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:37:12.392221+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C4B as ready",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:37:12.380803+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"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": "2022-03-21T16:37:02.368746+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: C4B.",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:36:50.837154+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C4B as Amber List (moderate evidence)",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:36:50.824572+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.63",
"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": "2022-03-21T16:35:12.543225+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.62",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4B: Changed rating: AMBER",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:34:47.476073+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.62",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4B: Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:34:40.403074+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.62",
"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 C4B alone leads to partial deficiency",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:30:28.035224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11667",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NDUFS5",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:28:34.465996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:27:54.491458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11666",
"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": "2022-03-21T16:27:25.079588+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:27:25.063767+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.394",
"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": "2022-03-21T16:27:16.109537+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.394",
"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": "2022-03-21T16:26:46.938914+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:26:09.261550+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.392",
"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": "2022-03-21T16:24:59.020146+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.391",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS4: Rating: RED; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555, 27079373, 15975579, 19364667, 27671926, 33093004, 29264396, 34484776; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:24:47.706571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: UCP3: Changed rating: RED",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:24:35.319152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Inheritance: Autosomal dominant, autosomal recessive and multifactorial\r\n\r\nPMID: 21544083\r\nIdentified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X).\r\n\r\nAll variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X; to: Inheritance: Autosomal dominant, autosomal recessive and multifactorial\r\n\r\nPMID: 21544083\r\nIdentified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X). Single pathogenic variant in ClinVar\r\n\r\nAll variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:23:27.428256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555, 27079373, 15975579, 19364667, 27671926, 33093004, 29264396, 34484776; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-21T16:09:08.444288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23545314, 30514647, 9792863; Phenotypes: Porphyria cutanea tarda, Porphyria, hepatoerythropoietic (MIM#176100); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:57:22.165367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "commented on gene: UQCRB: Three families, two had the same variant. Functional data.",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:57:21.992596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789, 25446085, 23454382; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:53:19.272305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24385928, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:44:53.264640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12958596; Phenotypes: Immunodeficiency with hyper IgM, type 5, MIM#608106; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:34:44.719711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:31:27.442271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:18:56.777714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:18:27.526396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C9 as ready",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:18:27.509968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c9 has been classified as Green List (High Evidence).",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:16:52.364090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:14:11.202335+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.62",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C9 as ready",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:14:11.184207+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.62",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c9 has been classified as Green List (High Evidence).",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:14:09.165860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C9 were set to ",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:14:07.591634+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.62",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:13:36.916180+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.61",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C9 were set to ",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:12:54.650325+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.60",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:12:24.444082+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.59",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9570574, 9703418, 9144525, 31440263, 9634479; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:12:20.188243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11663",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:11:52.822120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11662",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9570574, 9703418, 9144525, 31440263, 9634479; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C9",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:51:58.891166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11662",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C8B as ready",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:51:58.878118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11662",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c8b has been classified as Green List (High Evidence).",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:51:56.918280+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.59",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C8B as ready",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:51:56.907288+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.59",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c8b has been classified as Green List (High Evidence).",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:50:27.036665+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.59",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:50:08.835997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11662",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:54.923581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:47.286287+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.58",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:35.996402+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:23.577407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11661",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C8B were set to ",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:19.623062+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:09.436326+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:48:02.504785+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ABCC6.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:46:10.803900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11660",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:45:42.655467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:22:52.973593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense)\r\n\r\nPMID: 8098723; 3 families hom for a nonsense and 2 families 3rd het for the same nonsense and unknown 2nd allele\r\n\r\nAmber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.; to: 6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense)\r\n\r\n\r\nAmber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:22:32.298217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C8A: Changed publications: 9759902, 32769119",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:17:55.205620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119, 8098723; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T13:57:58.431324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271, 20301648; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-03-21T13:38:23.903000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: 11006213, 23563732, 27079236; Phenotypes: Cone-rod dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T13:19:56.956050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33237688, 32619790, 16960814, 18094730; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM#619041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T13:15:47.218807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10618503, 11238538, 21544083; Phenotypes: {Obesity, severe, and type II diabetes}; Mode of inheritance: Other",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:45:23.623781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C7 as ready",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:45:23.612540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c7 has been classified as Green List (High Evidence).",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:43:48.116586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11659",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:42:12.853183+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C7 as ready",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:42:12.841693+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c7 has been classified as Green List (High Evidence).",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:41:57.669886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11658",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C7 were set to ",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:41:23.114248+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.57",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:40:54.317927+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C7 were set to 22206826; 20591074; 17407100; 16771861; 16552475",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:40:32.993556+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.56",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C7 were set to ",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:40:03.525358+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.55",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:39:54.539560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11657",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:39:35.844699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861, 16552475; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:39:33.910120+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.54",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861, 16552475; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:09:07.485277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C6 were changed from C6 deficiency MIM#612446 to C6 deficiency MIM#612446",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:07:11.344119+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.54",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:06:57.515830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11655",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:05:50.654847+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.53",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:05:28.384012+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.53",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:05:06.901780+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.53",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:45.233138+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.53",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C6 were set to ",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:33.758149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11654",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:24.279909+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.53",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:19.842608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C6 were set to ",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:09.300126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:06.159833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11653",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C6",
"entity_type": "gene"
}
]
}