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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1468",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1466",
"results": [
{
"created": "2020-12-21T17:51:59.224661+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHSY1 as ready",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:51:59.216203+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Red List (Low Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:51:54.821246+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:51:22.204180+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHSY1 were set to ",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:50:50.827598+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:50:22.951741+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHSY1 as Red List (low evidence)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:50:22.944031+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Red List (Low Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:49:51.169165+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHSY1: Rating: RED; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:48:40.420470+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHSY1: Changed phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:48:29.124589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHSY1 as ready",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:48:29.115079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Green List (High Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:48:20.837459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:47:39.920433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHSY1 were set to ",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:47:13.927416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:46:51.950998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: VTemtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:45:29.255788+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHSY1 as ready",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:45:29.242351+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Green List (High Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:45:25.925205+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:44:06.759531+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHSY1 were set to ",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:43:32.762528+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:43:04.556656+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:37:51.253770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHDDS as ready",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:37:51.242098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:37:43.141671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, type 1bb, MIM# 613861",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:37:24.262547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHDDS were set to ",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:37:04.395466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHDDS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:36:46.821917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: DHDDS.",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:36:32.056678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHDDS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T17:36:22.602488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 29100083, 21295283; Phenotypes: Developmental delay and seizures with or without movement abnormalities, MIM#617836, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:52:29.708851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBLN1 were set to 11836357",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:51:47.235840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBLN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:51:27.086282+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 24084572; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:49:38.967577+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBLN1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:49:12.931557+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single association to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited; to: Single association of mono-allelic variants to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited.\r\n\r\nSingle report of homozygous missense in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy.",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:48:08.240284+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBLN1: Changed publications: 11836357, 24084572",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:47:56.132537+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBLN1 as ready",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:47:56.121976+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln1 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:46:54.310694+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBLN1 as Red List (low evidence)",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:46:54.303057+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln1 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:46:22.377313+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:42:17.768689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBLN1 as ready",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:42:17.754712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln1 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:42:08.590050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBLN1 were changed from to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:41:50.047872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBLN1 were set to ",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:41:28.953475+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBLN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:41:10.223186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBLN1 as Red List (low evidence)",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:41:10.214714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln1 has been classified as Red List (Low Evidence).",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:40:14.608865+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ST3GAL5.",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T16:02:30.821221+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.8",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TBL1X was added\ngene: TBL1X was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TBL1X were set to PMID: 27603907\nPhenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033\nReview for gene: TBL1X was set to GREEN\nAdded comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF\r\n\r\nAll mutations were located in the highly conserved WD40-repeat domains. \nSources: Literature",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T15:59:15.838621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5739",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TBL1X was added\ngene: TBL1X was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TBL1X were set to PMID: 27603907\nPhenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033\nReview for gene: TBL1X was set to GREEN\nAdded comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF\r\n\r\n All mutations were located in the highly conserved WD40-repeat domains. \nSources: Literature",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:57:36.187591+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:57:36.176071+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:57:30.229116+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST3GAL5 as Green List (high evidence)",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:57:30.218675+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:57:01.801004+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST3GAL5 was added\ngene: ST3GAL5 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ST3GAL5 were set to 23436467; 22990144; 15502825; 27232954; 30691927; 30688114; 30576498\nPhenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)\nReview for gene: ST3GAL5 was set to GREEN\nAdded comment: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported. \nSources: Expert Review",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:55:34.615667+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome; OMIM #609056 to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:55:06.804700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL5 were set to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:53:51.738666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ST3GAL5.",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:53:42.358927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:52:55.095455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ST3GAL5.",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:52:34.864113+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ST3GAL5.",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:52:20.930867+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:52:20.922229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:52:18.090889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:51:48.528865+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL5 were set to ",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:51:20.481523+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:50:49.372705+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:50:09.134685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:50:09.127256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:50:00.722835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:49:41.468407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL5 were set to ",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:49:21.443755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:49:01.420588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:48:35.423405+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:48:35.415123+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:48:28.650345+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ST3GAL5.",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:48:00.265355+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:47:32.860697+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL5 were set to ",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:47:04.710147+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T13:46:32.896040+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-12-21T12:21:33.344426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5736",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2020-12-21T12:09:37.085455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DPYD: Rating: AMBER; Mode of pathogenicity: None; Publications: 10071185, 25565930, 30349988, 28275972, 17065071, 21114665, 22003227, 28123791; Phenotypes: Dihydropyrimidine dehydrogenase deficiency (MIM#274270); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:19:49.216104+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.75",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: C1QBP was added\ngene: C1QBP was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1QBP were set to PMID: 28942965\nPhenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM# 617713\nReview for gene: C1QBP was set to GREEN\nAdded comment: Highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. PEO onset has been reported in childhood. \nSources: Literature",
"entity_name": "C1QBP",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:15:30.698218+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.75",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: SLC18A3 was added\ngene: SLC18A3 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A3 were set to PMID: 27590285; 20123977; 28188302; 31059209\nPhenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239\nReview for gene: SLC18A3 was set to GREEN\nAdded comment: congenital myasthenic syndrome - ptosis and ophthalmoplegia are common features. \r\n\r\nThree families with bi-allelic variants and a mouse model support gene-disease association. Fetal akinesia reported in association with LOF variants. \nSources: Literature",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:15:08.087958+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:15:08.070279+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:15:02.064471+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUCLA2 as Green List (high evidence)",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:15:02.052756+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:14:33.054587+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCLA2 were set to 15877282; 17287286; 17301081; 23759946; 33231368; 33230181; 28243576; 27913098; 27651038\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791\nReview for gene: SUCLA2 was set to GREEN\nAdded comment: Bi-allelic variants in this gene are associated with a disorder characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. More than 10 unrelated families reported. \nSources: Expert Review",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:12:47.594144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:12:47.582558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:12:39.826720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:12:21.423677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLA2 were set to ",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:12:02.439380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:11:42.503725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUCLA2: Changed phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:11:12.469982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877282, 17287286, 17301081, 23759946, 33231368, 33230181, 28243576, 27913098, 27651038; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:07:14.201460+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:07:14.193308+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:06:49.059629+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:06:39.993069+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUCLA2 as Green List (high evidence)",
"entity_name": "SUCLA2",
"entity_type": "gene"
}
]
}