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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1498",
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"results": [
{
"created": "2020-11-25T12:21:51.614646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA1 were set to ",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:33.389826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA1 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": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:14.772376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA1 as Red List (low evidence)",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:14.761618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca1 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:59.663128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKAL1 as ready",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:59.652373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkal1 has been classified as Red List (Low Evidence).",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:50.792954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKAL1 as Red List (low evidence)",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:50.782019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkal1 has been classified as Red List (Low Evidence).",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:03.338275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCHH as ready",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:03.330250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tchh has been classified as Red List (Low Evidence).",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:56.445083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCHH were changed from to Uncombable hair syndrome 3 MIM#617252",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:37.125080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCHH were set to ",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:19.026127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:02.369945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCHH as Red List (low evidence)",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:02.358913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tchh has been classified as Red List (Low Evidence).",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:14:43.934313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:02:30.966512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: CDKAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:49.205554+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:49.194119+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:42.704958+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:11.825819+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:42:44.306319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: SMARCA1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26740508, 26539891, 29249292.; Phenotypes: ; 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": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T10:00:13.491220+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:59:43.772555+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:41.627281+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:41.619181+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:39.174926+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:09.443595+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:57:38.542734+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:48.752960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:48.742474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:42.226009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:20.739826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:55:57.940908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:46:15.413028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:46:15.401844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:46:00.862078+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:45:27.699428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:44:22.405663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X 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": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:43:13.386057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:43:13.377964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:43:04.328397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:42:44.697909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:42:31.686305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X 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": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:40:42.847896+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:40:42.836524+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Red List (Low Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:40:39.852621+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:40:08.352450+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:39:38.822420+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:39:09.229917+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG6 as Red List (low evidence)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:39:09.222089+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Red List (Low Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:38:40.378754+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:36:42.770708+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:36:42.759968+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Red List (Low Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:36:40.233098+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:36:10.729031+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:35:40.520255+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:35:12.699703+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG6 as Red List (low evidence)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:35:12.685340+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Red List (Low Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:34:42.565361+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:28:17.146294+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:28:17.137931+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:28:14.547611+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:27:44.117020+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:27:07.000622+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:26:36.442355+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:25:22.467413+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:25:22.435364+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:25:14.573914+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:24:41.209839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:24:07.627913+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:23:34.096254+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:33:42.418626+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:33:42.410941+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:33:39.234292+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:32:37.075522+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:31:08.787142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:30:38.018848+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:29:43.356313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:29:43.342987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:29:35.399800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:29:16.241170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:28:53.162486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:28:29.673383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:27:19.111519+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:27:19.095694+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:27:10.915423+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:26:41.941733+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:26:04.296489+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:23:04.023261+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:22:04.019708+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:22:04.008047+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Red List (Low Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:21:56.911705+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOGS was added\ngene: MOGS was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOGS were set to 33058492\nPhenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056\nReview for gene: MOGS was set to RED\nAdded comment: 7 individuals from 6 unrelated families reported with CDGIIb. Of these, one had prominent dystonia, with forced posture of the head and of both hands, as well as a hyperkinetic movement disorder. \nSources: Expert Review",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:13:21.008083+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOGS was added\ngene: MOGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOGS were set to 31925597; 30587846; 33058492\nPhenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056\nReview for gene: MOGS was set to GREEN\nAdded comment: Six unrelated families reported. Common features include: hypotonia, global developmental delay, feeding problems, seizures, movement disorder, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front. \nSources: Expert Review",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:11:52.061371+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:11:52.050656+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:11:46.920507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:11:13.849697+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to ",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:10:36.714989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-11-25T08:09:45.056047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MOGS",
"entity_type": "gene"
}
]
}