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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1400",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1398",
"results": [
{
"created": "2021-02-26T21:08:18.159113+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT2 as ready",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:08:18.147763+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt2 has been classified as Green List (High Evidence).",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:08:14.674577+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia with hemihypertrophy 240900",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:07:44.307557+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT2 were set to ",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:07:12.704298+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:06:43.087572+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408773, 21979934]; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:02:17.258694+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:02:17.250910+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:02:03.237333+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM# 300257",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:01:30.489143+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T21:00:55.138193+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:56:18.942772+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYG1 as ready",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:56:18.932926+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Green List (High Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:56:13.014300+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYG1 were changed from to Glycogen storage disease XV, MIM# 613507; Polyglucosan body myopathy 2, MIM# 616199",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:55:42.697472+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GYG1 were set to ",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:55:07.949413+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:54:33.337283+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GYG1: Changed rating: GREEN",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:54:27.852396+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYG1: Rating: ; Mode of pathogenicity: None; Publications: 31791869, 20357282, 27718144; Phenotypes: Glycogen storage disease XV, MIM# 613507, Polyglucosan body myopathy 2, MIM# 616199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:49:25.271363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP2 as ready",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:49:25.263402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Green List (High Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:49:17.688576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP2 were changed from to Speech-language disorder-1, MIM# 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:48:59.479029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP2 were set to ",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:48:41.124067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:48:20.386045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877281, 15983371, 27336128; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:46:19.046621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:46:19.036286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:46:10.808358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:45:36.099664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLI3 were set to ",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:45:15.523910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:44:01.572824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF22 as ready",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:44:01.550325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif22 has been classified as Green List (High Evidence).",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:43:52.424017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF22 were set to 22152677; 22152678",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:43:27.920942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: 25256152; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:39:53.122589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF22 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:39:26.780663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF22 were set to ",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T20:39:03.300712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:48:43.880339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6468",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANKZF1 as ready",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:48:43.869626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6468",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ankzf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:48:16.927036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6468",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANKZF1 as Amber List (moderate evidence)",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:48:16.916309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6468",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ankzf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:47:36.783288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6467",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANKZF1 was added\ngene: ANKZF1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANKZF1 were set to 28302725\nPhenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease\nReview for gene: ANKZF1 was set to AMBER\nAdded comment: Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity. \nSources: Other",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:46:50.303366+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ANKZF1 as ready",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:46:50.292189+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ankzf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:46:14.635617+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANKZF1 as Amber List (moderate evidence)",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:46:14.625368+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ankzf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:45:42.092309+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANKZF1 was added\ngene: ANKZF1 was added to Inflammatory bowel disease. Sources: Other\nMode of inheritance for gene: ANKZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANKZF1 were set to 28302725\nPhenotypes for gene: ANKZF1 were set to Infantile-onset inflammatory bowel disease\nReview for gene: ANKZF1 was set to AMBER\nAdded comment: Two unrelated cases (1 homozygous and 1 compound heterozygous), and supporting in vitro and yeast assays indicating that loss-of-function mutations in ANKZF1 result in deregulation of mitochondrial integrity. \nSources: Other",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:35:21.973329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6466",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANGPT1 as Amber List (moderate evidence)",
"entity_name": "ANGPT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:35:21.960196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6466",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: angpt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANGPT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:35:03.329828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6465",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANGPT1 was added\ngene: ANGPT1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224\nPhenotypes for gene: ANGPT1 were set to Hereditary angioedema\nReview for gene: ANGPT1 was set to AMBER\nAdded comment: A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene. \nSources: Other",
"entity_name": "ANGPT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:32:51.600774+11:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANGPT1 as Amber List (moderate evidence)",
"entity_name": "ANGPT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:32:51.592927+11:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: angpt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANGPT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T16:32:02.257460+11:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANGPT1 was added\ngene: ANGPT1 was added to Hereditary angioedema. Sources: Other\nMode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224\nPhenotypes for gene: ANGPT1 were set to Hereditary angioedema\nReview for gene: ANGPT1 was set to AMBER\nAdded comment: A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene. \nSources: Other",
"entity_name": "ANGPT1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:57:31.563706+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP2 as ready",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:57:31.553325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Green List (High Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:57:26.878656+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP2 were changed from to Speech-language disorder-1, MIM# 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:54:52.650560+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP2 were set to ",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:54:26.271222+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:53:45.786036+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877281, 15983371, 27336128; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:51:14.302824+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAAHP1 as ready",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:51:14.292000+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: faahp1 has been classified as Red List (Low Evidence).",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:51:03.740467+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAAHP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:50:52.772620+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAAHP1 as Red List (low evidence)",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:50:52.763353+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: faahp1 has been classified as Red List (Low Evidence).",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:50:44.665714+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAAHP1: Rating: RED; Mode of pathogenicity: None; Publications: 30929760; Phenotypes: pain insensitivity; Mode of inheritance: Unknown",
"entity_name": "FAAHP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:40:39.740620+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLTCL1 as ready",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:40:39.729470+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cltcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:40:32.190328+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CLTCL1 were set to 26068709",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:40:13.498054+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLTCL1 as Amber List (moderate evidence)",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:40:13.487812+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cltcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:40:03.992544+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26068709, 29402896; Phenotypes: pain insensitivity, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:39:34.596885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6464",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLTCL1 as ready",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:39:34.582922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6464",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cltcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:39:23.988843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6464",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLTCL1 as Amber List (moderate evidence)",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:39:23.985280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6464",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: A single family, but also some compelling functional data for an association with insensitivity to pain.",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:39:23.967130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6464",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cltcl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:37:45.257654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.\r\n\r\nPMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system\r\n\r\nOther reports of associations with limited evidence:\r\nPMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.\r\n\r\nPMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively. \nSources: Literature; to: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.\r\n\r\nPMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system.\r\n\r\nOther reports of associations with limited evidence:\r\nPMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.\r\n\r\nPMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively. \r\nSources: Literature",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T14:37:17.477682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6463",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLTCL1 was added\ngene: CLTCL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLTCL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLTCL1 were set to 26068709; 29402896; 22511880; 31354784\nPhenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain\nReview for gene: CLTCL1 was set to AMBER\nAdded comment: PMID: 26068709 - Three siblings in a single consanguineous family with congenital insensitivity to pain, inability to feel touch, and cognitive delay and a homozygous rare missense variant (Glu330Lys - no homozygotes in gnomAD v2.1). In vitro functional assays of the variant suggested a deleterious effect on the protein. Additionally cellular assays suggested a role for the gene in neural crest development and in the genesis of pain and touch sensing neurons.\r\n\r\nPMID: 29402896 - more in depth functional assays and proteomic analyses suggesting a role for the protein in regulating sensory neuron differentiation in the human peripheral system\r\n\r\nOther reports of associations with limited evidence:\r\nPMID: 22511880 - Identified as a candidate gene in an autism study, but the homozygous variant (reported as R125C, but actually R1165C) has 40 homozygotes in gnomAD v2.1. And many of the other compound heterozygous candidate variants in the study are too common in gnomAD v2.1, with many homozygotes present. The missense reported in the pain insensitivity family Glu330Lys was reported with another rare missense variant (Glu1310Lys) in one of the autism cases, but no other phenotype information was provided.\r\n\r\nPMID: 31354784 - a single case with infantile spasm reported with compound het missense (Met1316Val & Arg1165Cys), but both are very common in gnomAD v2.1 with 33,000 and 40 homozygotes, respectively. \nSources: Literature",
"entity_name": "CLTCL1",
"entity_type": "gene"
},
{
"created": "2021-02-26T12:36:57.312288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6462",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-02-26T12:34:59.615246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6462",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32591344, 18000979, 24736735; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2021-02-26T12:14:02.764224+11:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-26T12:10:12.557252+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to Premature ovarian failure 18, MIM# 619203",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-26T12:09:57.363761+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C14orf39: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature ovarian failure 18, MIM# 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-26T12:09:21.669161+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C14orf39 were changed from Azoospermia; Premature ovarian insufficiency to Spermatogenic failure 52, MIM# 619202; Premature ovarian failure 18 619203",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-26T12:08:56.473001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C14orf39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 52, MIM# 619202, Premature ovarian failure 18 619203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2021-02-26T09:18:41.338192+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191",
"entity_name": "SLC7A6OS",
"entity_type": "gene"
},
{
"created": "2021-02-26T09:18:29.858574+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191",
"entity_name": "SLC7A6OS",
"entity_type": "gene"
},
{
"created": "2021-02-26T09:15:32.753784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191",
"entity_name": "SLC7A6OS",
"entity_type": "gene"
},
{
"created": "2021-02-26T09:15:10.709297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191",
"entity_name": "SLC7A6OS",
"entity_type": "gene"
},
{
"created": "2021-02-26T09:14:46.377341+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191; Progressive myoclonus epilepsy",
"entity_name": "SLC7A6OS",
"entity_type": "gene"
},
{
"created": "2021-02-26T09:14:10.350897+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC7A6OS: Changed phenotypes: Epilepsy, progressive myoclonic, 12, MIM# 619191, Progressive myoclonus epilepsy",
"entity_name": "SLC7A6OS",
"entity_type": "gene"
},
{
"created": "2021-02-26T08:41:29.901442+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.49",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10330341; Phenotypes: Glycogen storage disease, type IXa1, Glycogen storage disease, type IXa2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:09:39.552806+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:09:39.534014+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:09:36.828809+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:08:43.617606+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBE1 were set to ",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:08:13.931290+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:07:31.451995+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8613547; Phenotypes: Glycogen storage disease IV, MIM# 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:05:49.824472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC as ready",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:05:49.814501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc has been classified as Green List (High Evidence).",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2021-02-25T21:05:37.156039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC were changed from to Glycogen storage disease Ia, MIM# 232200",
"entity_name": "G6PC",
"entity_type": "gene"
}
]
}