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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1463",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1461",
"results": [
{
"created": "2020-12-27T16:03:02.705808+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMOC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMOC1",
"entity_type": "gene"
},
{
"created": "2020-12-27T16:02:13.418475+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194678, 21194680, 30445150; Phenotypes: Microphthalmia with limb anomalies, MIM# 206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMOC1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:58:34.554488+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHS as ready",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:58:34.543453+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhs has been classified as Green List (High Evidence).",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:58:31.453666+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHS were changed from to Nance-Horan syndrome, MIM# 302350",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:58:02.950904+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHS 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": "NHS",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:57:32.910007+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome, MIM# 302350; 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": "NHS",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:56:28.158799+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:56:28.150303+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Red List (Low Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:56:25.478708+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:55:57.848501+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HESX1 were set to ",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:55:27.137200+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:55:00.014073+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HESX1 as Red List (low evidence)",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:54:59.998746+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Red List (Low Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T15:54:32.092993+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: RED; Mode of pathogenicity: None; Publications: 11136712; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:29:31.580617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFRP as ready",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:29:31.572706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfrp has been classified as Green List (High Evidence).",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:29:15.018532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:28:57.132927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFRP were set to ",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:28:36.526060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:28:18.946889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:27:34.495272+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFRP as ready",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:27:34.484303+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfrp has been classified as Green List (High Evidence).",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:27:31.753488+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:27:05.292002+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFRP were set to ",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:26:37.851644+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:26:03.840757+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17167404, 18554571, 20361016; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:22:35.935805+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAB21L2 as ready",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:22:35.923988+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l2 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:22:31.850175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:21:59.368918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAB21L2 were set to ",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:21:17.357415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:20:44.670206+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:20:01.897569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAB21L2 as ready",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:20:01.878544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l2 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:19:54.538305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:19:18.909037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAB21L2 were set to ",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:18:59.128171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:18:32.709055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID. One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease. Three different animal models support gene-disease association.",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:18:19.332618+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Two individuals with the c.151C > T (p.Arg51Cys) variant also had ID.\r\n\r\nOne family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.\r\n\r\nThree different animal models support gene-disease association.; to: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.\r\n\r\nOne family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.\r\n\r\nThree different animal models support gene-disease association.",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:15:35.939446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:14:43.307015+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAB21L2 as ready",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:14:43.298845+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mab21l2 has been classified as Green List (High Evidence).",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:14:40.488081+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAB21L2 were changed from to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:14:12.557077+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAB21L2 were set to ",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:13:44.250068+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAB21L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:13:13.865559+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24906020, 25719200, 31037784, 30375740, 30073347, 26116559; Phenotypes: Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAB21L2",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:03:25.487779+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS1 as ready",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:03:25.477019+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Red List (Low Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:03:22.840464+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:02:53.566748+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS1 were set to ",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:02:25.162496+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:01:50.514351+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDSS1 as Red List (low evidence)",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:01:50.505887+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Red List (Low Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T14:01:14.995504+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:51:12.984440+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS1 as ready",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:51:12.973410+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Green List (High Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:51:08.021261+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:50:35.244005+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS1 were set to ",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:49:59.336835+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:49:07.748008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS1 as ready",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:49:07.739945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Green List (High Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:48:59.747413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:48:40.433438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS1 were set to ",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:48:20.193490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:47:53.128817+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDSS1 as ready",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:47:53.115026+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdss1 has been classified as Green List (High Evidence).",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:47:49.263109+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:47:19.520597+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDSS1 were set to ",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:46:49.739190+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:37:25.783384+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1A as ready",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T13:37:25.755957+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:56:47.777782+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3338",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:54:47.650932+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.560",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:50:44.047323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5804",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:44:38.208433+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, MIM# 616462",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:43:06.022315+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1A were set to 25913037",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:42:46.666829+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1A were set to ",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:42:11.480562+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:41:42.240605+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037; Phenotypes: Acrofacial dysostosis, Cincinnati type, MIM# 616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:39:57.888210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1A as ready",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:39:57.885032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Limited evidence for the association between bi-allelic variants and leukodystrophy.",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:39:57.857155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1a has been classified as Green List (High Evidence).",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:39:25.000297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462) to Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:38:29.854352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, (MIM#616462)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:38:07.081690+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1A were set to ",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T10:37:47.099896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T09:53:22.079139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5800",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2020-12-27T09:01:47.181259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LOXL3 as ready",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2020-12-27T09:01:47.173807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: loxl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2020-12-27T09:01:36.790321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LOXL3 as Amber List (moderate evidence)",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2020-12-27T09:01:36.782659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: loxl3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2020-12-27T09:01:17.096735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LOXL3 was added\ngene: LOXL3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXL3 were set to 30362103; 25663169\nPhenotypes for gene: LOXL3 were set to Stickler syndrome\nReview for gene: LOXL3 was set to AMBER\nAdded comment: Two unrelated families reported with homozygous missense variants, mouse model supports gene-disease association. \nSources: Expert Review",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:34:25.462028+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMCHD1 as ready",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:34:25.446790+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smchd1 has been classified as Green List (High Evidence).",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:34:23.165229+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome (MIM#603457)",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:33:56.025600+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMCHD1 were set to ",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:33:31.872101+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SMCHD1 was changed from to Other",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:33:07.844448+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMCHD1",
"entity_type": "gene"
},
{
"created": "2020-12-24T17:31:23.540240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBP4 as ready",
"entity_name": "RBP4",
"entity_type": "gene"
}
]
}