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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=861",
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"results": [
{
"created": "2022-05-04T12:59:06.466445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24270420; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:48:32.245027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:48:32.232593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:48:26.749692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4 MIM#612016",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:48:18.291779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COQ8A were set to ",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:48:16.118089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13680",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:47:53.772468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:38:28.688387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COQ7 as ready",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:38:28.678084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coq7 has been classified as Green List (High Evidence).",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:37:59.660904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COQ7 were changed from to Coenzyme Q10 deficiency, primary, 8 MIM#616733",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:37:59.167437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COQ7 were set to ",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:37:38.916080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13679",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:37:19.241137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26084283, 31240163, 33215859, 28409910; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:27:25.538435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COQ6 as ready",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:27:25.525307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coq6 has been classified as Green List (High Evidence).",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:27:05.108017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COQ6 were set to ",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:26:57.582096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 MIM#614650",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:26:54.236472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13678",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:26:33.660917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28125198; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:24:11.266288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COMP were set to ",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:24:02.795451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COMP were changed from to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:23:59.323411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COMP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:23:47.120911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag STR tag was added to gene: COMP.",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:23:36.902180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301302, 20301660; Phenotypes: Epiphyseal dysplasia, multiple, 1 MIM#132400, Pseudoachondroplasia MIM#177170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:17:22.625681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL9A2 as ready",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:17:22.614203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Green List (High Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:16:41.027287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL9A2 were set to ",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:16:34.224321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:16:29.979837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13675",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:16:10.273736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723, 10364514, 15633184, 20358595, 8528240; Phenotypes: Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:02:48.936779+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.23",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DYRK1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34193236, 34786696, 24827035, 28743892; Phenotypes: Abdominal obesity-metabolic syndrome 3 - MIM#615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:01:25.371859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DYRK1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34193236, 34786696, 24827035, 28743892; Phenotypes: Abdominal obesity-metabolic syndrome 3 - MIM#615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:17:07.663853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:17:07.646177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Green List (High Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:17:04.686068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL6A3 were set to ",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:16:59.445904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A3 were changed from to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:16:53.209996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13674",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:16:34.975552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL6A3: Changed publications: 20301676, 26004199, 32037012, 26872670, 32037012",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:16:23.442397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL6A2: Changed publications: 20301676",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:16:06.094281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL6A2: Changed publications: 20301676, 26004199, 32037012, 26872670, 32037012",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:15:34.341193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:13:39.127904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: GeneReviews PMID:20301676 \r\n\r\nAD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes \r\n\r\nAR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly\r\n\r\nCOL621 accounts for 44-46% of Collagen VI-Related Dystrophies cases; to: GeneReviews PMID:20301676 \r\n\r\nAD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes \r\n\r\nAR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly\r\n\r\nCOL6A2 accounts for 44-46% of Collagen VI-Related Dystrophies cases",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:12:58.395900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL6A2 as ready",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:12:58.382593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Green List (High Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:12:58.112262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13673",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A2 were changed from to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:12:46.024265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL6A2 were set to ",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:12:29.847991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13672",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:12:02.370782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:11:42.013222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Well established association\r\n\r\nGenereviews PMID:20301676 \r\n\r\nAD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes \r\n\r\nAR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly; to: Well established association\r\n\r\nGenereviews PMID:20301676 \r\n\r\nAD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes \r\n\r\nAR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly\r\n\r\nCOL6A1 accounts for 35-38% of Collagen VI-Related Dystrophies cases",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:04:30.449421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL6A1 as ready",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:04:30.433352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Green List (High Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:03:45.452686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A1 were changed from to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:03:42.546205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13671",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL6A1 were set to ",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:02:46.139761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13670",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL6A1: Changed publications: 20301676, 25535305, 15955946, 23738969, 29277723, 24443028; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:02:13.558384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13670",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T11:00:45.506000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Well established association\r\n\r\nBoth loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028). \r\nSources: Literature; to: Well established association\r\n\r\nGenereviews PMID:20301676 \r\n\r\nAD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes \r\n\r\nAR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:53:28.527605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25535305, 15955946, 23738969, 29277723, 24443028; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:43:16.496673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL5A2 as ready",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:43:16.470174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Green List (High Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:43:05.374523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL5A2 were set to ",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:42:59.915054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13670",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2 MIM#130010",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:42:53.713193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13669",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:42:34.415656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301422; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:32:13.150841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL4A4 as ready",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:32:13.138535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Green List (High Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:32:04.043426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13668",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A4 were changed from to Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:31:47.372932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13667",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL4A4 were set to ",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:31:41.242666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13667",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:31:26.218290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301386; Phenotypes: Alport syndrome 2, autosomal recessive MIM#203780, Hematuria, familial benign MIM#141200; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:08:39.306207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL4A3 as ready",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:08:39.293293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:08:31.641119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:08:22.123381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:07:59.888413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:06:50.435783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:06:50.425587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Green List (High Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:06:44.404413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL4A2 were set to ",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:06:38.851560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:06:34.442506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T10:06:12.066582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 33912663, 22209246, 30315939, 22333902; Phenotypes: Cerebral Palsy MONDO#0006497, COL4A2-related, Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:58:37.186359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:58:37.170721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:58:26.734764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:58:17.567996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13663",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:58:16.756505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13663",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:57:53.288229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13662",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545, 25719457, 21625620, 23225343, 23065703, 20818663, 20301768; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:56:51.881663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMOX1 as ready",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:56:51.868914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:56:42.094262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMOX1 were changed from to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:56:20.288546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMOX1 were set to ",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:55:59.033998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:55:40.525984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMOX1 as Amber List (moderate evidence)",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:55:40.514610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:50:23.264651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13658",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL27A1: Changed phenotypes: Steel syndrome MIM #615155",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:50:11.447369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13658",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL27A1 as ready",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:50:11.435357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13658",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col27a1 has been classified as Green List (High Evidence).",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:49:50.386083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13658",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL27A1 were changed from to Steel syndrome, MIM #615155",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:49:38.233760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13657",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL27A1 were set to ",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:49:34.973952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13657",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL27A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T09:49:19.684212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13656",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986830, 28276056, 28322503, 32360765, 33963180; Phenotypes: Steel syndrome, OMIM #615155; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL27A1",
"entity_type": "gene"
}
]
}