HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1927",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1925",
"results": [
{
"created": "2020-02-14T22:00:47.596733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T22:00:13.634325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: 28327570; Phenotypes: Verheij syndrome, MIM# 615583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:58:32.505367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUF60 as ready",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:58:32.491987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: puf60 has been classified as Green List (High Evidence).",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:58:21.353037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM#\t615583",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:57:48.517369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:57:01.699532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:57:01.684758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:56:51.641997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:56:24.724014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRX 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": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:29:36.997384+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRMT10A as Amber List (moderate evidence)",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:29:36.988256+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:29:08.899953+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hyperinsulinaemia reported in some individuals with this condition. \nSources: Expert list; to: Hyperinsulinaemia reported in some individuals with this condition ?one family.\r\nSources: Expert list",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:28:31.083333+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRMT10A: Changed rating: AMBER",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:27:18.965039+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRMT10A: Changed publications: 25053765; Changed phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:21:48.855471+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEN1 were changed from Insulinoma to Insulinoma; Multiple endocrine neoplasia 1, MIM# 131100",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T19:21:12.180236+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: None",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:57:32.389362+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:57:32.380128+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:57:27.404305+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:57:04.734559+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:56:43.196488+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2S3 as Red List (low evidence)",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:56:43.183203+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Red List (Low Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T18:56:15.677698+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:25:51.663453+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1D as ready",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:25:51.653185+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:25:44.312250+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1D was added\ngene: CACNA1D was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1D were set to 28318089; 23913001\nPhenotypes for gene: CACNA1D were set to Hyperinsulinism; heart defect; hypotonia\nMode of pathogenicity for gene: CACNA1D was set to Other\nReview for gene: CACNA1D was set to RED\nAdded comment: GoF de novo variant reported in infant with persistent hyperinsulinaemia, congenital heart disease and hypotonia. Same variant reported in another individual with some overlapping features and transient hypoglycaemia in the newborn period; however, hyperinsulinaemia not confirmed in this other individual. \nSources: Expert list",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:14:44.691847+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPI as ready",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:14:44.678766+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Red List (Low Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:14:38.996637+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPI as Red List (low evidence)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-02-14T16:14:38.988148+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Red List (Low Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:44:22.290889+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.20",
"user_name": "Michelle de Silva",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Hyperinsulinism. Sources: Expert Review\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPI were set to PMID: 29531722; 0980531\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579\nReview for gene: MPI was set to AMBER\nAdded comment: There seems to be only one reported case of an infant with hyperinsulinaemic hypoglycaemia where there is molecular association with the MPI gene (PMID: 29531722). \r\nVariants in MPI are shown to cause MPI-CDG (CDG-Ib; PMID: 0980531) and hypoglycaemia is a feature of MPI-CDG. \nSources: Expert Review",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:31:47.993254+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEN1 as ready",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:31:47.984516+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:31:42.044210+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEN1 as Green List (high evidence)",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:31:42.030727+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:24:57.521938+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.19",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Hyperinsulinism. Sources: Expert Review\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEN1 were set to 20301710\nPhenotypes for gene: MEN1 were set to Insulinoma\nReview for gene: MEN1 was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:24:01.947359+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:24:01.938252+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:23:39.354228+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: PMM2.",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:23:33.714512+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMM2 as Green List (high evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:23:33.705682+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:22:13.757864+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UCP2 as ready",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:22:13.744781+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ucp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:22:08.359797+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UCP2 were changed from to Hyperinsulinism",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:21:39.511772+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UCP2 were set to ",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:21:12.873149+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:20:37.583870+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UCP2 as Amber List (moderate evidence)",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:20:37.574895+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ucp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:20:05.756718+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272; Phenotypes: Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:17:13.795420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2178",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:09:25.984828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23246288; Phenotypes: Cowden syndrome 6, Proteus syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:06:37.217296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29220678; Phenotypes: Peroxisome biogenesis disorder 4B, Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:58:30.128033+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.14",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Hyperinsulinism. Sources: Expert Review\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to PMID: 28373276\nPhenotypes for gene: PMM2 were set to Polycystic Kidney Disease; Hyperinsulinemic Hypoglycemia\nPenetrance for gene: PMM2 were set to unknown\nMode of pathogenicity for gene: PMM2 was set to Other\nAdded comment: All patients had a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations. \nSources: Expert Review",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:55:28.068277+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT10A as ready",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:55:28.058964+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Green List (High Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:55:22.398438+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRMT10A as Green List (high evidence)",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:55:22.384873+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Green List (High Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:54:52.531478+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM#\t616033\nReview for gene: TRMT10A was set to GREEN\nAdded comment: Hyperinsulinaemia reported in some individuals with this condition. \nSources: Expert list",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:55.846287+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSD1 as ready",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:55.831813+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Green List (High Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:52.528414+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSD1 as Green List (high evidence)",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:52.519334+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Green List (High Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:11.057892+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXA2 as ready",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:11.048896+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxa2 has been classified as Green List (High Evidence).",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:06.743569+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXA2 as Green List (high evidence)",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:51:06.730241+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxa2 has been classified as Green List (High Evidence).",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:50:38.525279+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXA2 was added\ngene: FOXA2 was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXA2 were set to 29329447; 28973288; 11445544\nPhenotypes for gene: FOXA2 were set to Hyperinsulinaemia\nReview for gene: FOXA2 was set to GREEN\nAdded comment: At least two families reported and functional data. \nSources: Expert list",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:45:13.491459+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.9",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD1 were set to 30719864\nPhenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550)\nReview for gene: NSD1 was set to GREEN\nAdded comment: Cohort of nine patients with hyperinsulinism, persistent in 3 of 9. \nSources: Literature",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:38:24.271276+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:38:24.258104+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:38:18.958410+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM#\t147920",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:37:42.509762+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:37:42.500697+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:35:57.719826+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.7",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Hyperinsulinism. Sources: Expert Review\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 29907798\nReview for gene: KMT2D was set to GREEN\nAdded comment: Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period. \nSources: Expert Review",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:34:58.634250+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HK1 as ready",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:34:58.624568+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Red List (Low Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:34:53.174977+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from to Hyperinsulinaemia",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:34:12.491170+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HK1 as Red List (low evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:34:12.481359+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Red List (Low Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:33:24.813784+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:33:24.804876+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:33:18.724323+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM6A as Green List (high evidence)",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:33:18.710258+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Green List (High Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:32:33.614562+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: KDM6A was set to Other\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM#\t300867\nReview for gene: KDM6A was set to GREEN\nAdded comment: Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period. \nSources: Expert list",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:30:52.402222+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.3",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Hyperinsulinism. Sources: Expert Review\nMode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HK1 were set to 23859901\nReview for gene: HK1 was set to RED\nAdded comment: Single family with hyperinsulinism. \r\nBi-allelic variants cause haemolytic anaemia, motor and sensory neuropathy.\r\nMono-allelic variants cause retinitis pigmentosa and neurodevelopmental syndrome. \nSources: Expert Review",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:23:49.024136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Verheij syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:21:47.848545+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INSR as ready",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:21:47.839139+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Green List (High Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:21:40.730153+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INSR as Green List (high evidence)",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:21:40.716488+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: insr has been classified as Green List (High Evidence).",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:21:25.588742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KMT2E",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:21:10.804631+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Hyperinsulinism. Sources: Expert Review\nMode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: INSR were set to 15161766; 26691667; 31989990\nPhenotypes for gene: INSR were set to Hyperinsulinemic hypoglycemia, familial, 5, MIM#\t609968\nReview for gene: INSR was set to GREEN\nAdded comment: Monoallelic variants cause hyperinsulinaemic hypoglycaemia; only one family reported with bi-allelic variants and atypical presentation of Rabson-Mendenhall syndrome. \nSources: Expert Review",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-02-14T14:19:37.556247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia myelodysplasia syndrome, somatic, Alpha-thalassemia/mental retardation syndrome, Mental retardation-hypotonic facies syndrome, X-linked; 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": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-02-14T12:10:49.263680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PUM1: Changed rating: GREEN",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-14T12:06:06.755236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTRHD1 as ready",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T12:06:06.746290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptrhd1 has been classified as Green List (High Evidence).",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T12:05:56.754883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTRHD1 as Green List (high evidence)",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T12:05:56.744963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptrhd1 has been classified as Green List (High Evidence).",
"entity_name": "PTRHD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T12:05:19.980722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTRHD1 was added\ngene: PTRHD1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421\nPhenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability\nReview for gene: PTRHD1 was set to GREEN\nAdded comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID. \nSources: Expert list",
"entity_name": "PTRHD1",
"entity_type": "gene"
}
]
}