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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1505",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1503",
"results": [
{
"created": "2020-11-11T17:48:44.016013+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:48:34.682646+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A6 was added\ngene: SLC9A6 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, MIM#\t300243\nReview for gene: SLC9A6 was set to GREEN\nAdded comment: Impaired eye movements including ophthalmoplegia are a feature. \nSources: Expert list",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:39:16.048131+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.39",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: DBH as ready",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:39:16.037948+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.39",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: dbh has been classified as Green List (High Evidence).",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:39:13.163627+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.39",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DBH as Green List (high evidence)",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:39:13.155172+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.39",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: dbh has been classified as Green List (High Evidence).",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:38:57.048016+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.38",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: DBH was added\ngene: DBH was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBH were set to 21209083; 11857564\nPhenotypes for gene: DBH were set to OMIM# 223360 ORTHOSTATIC HYPOTENSION 1; ORTHYP1\nReview for gene: DBH was set to GREEN\nAdded comment: Two unrelated families reported and functional studies \nSources: Literature",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:36:32.823864+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHB as ready",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:36:32.806631+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhb has been classified as Green List (High Evidence).",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:36:23.698289+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDHB as Green List (high evidence)",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:36:23.690595+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhb has been classified as Green List (High Evidence).",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:36:14.218372+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHB was added\ngene: PDHB was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM#\t614111\nReview for gene: PDHB was set to GREEN\nAdded comment: Well established gene disease association, strabismus and abnormal eye movements are a feature in addition to lactic acidosis and hypotonia. \nSources: Expert list",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:31:56.523689+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:31:56.511651+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Green List (High Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:31:33.155615+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COLQ as Green List (high evidence)",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:31:33.145050+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Green List (High Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:31:24.201172+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLQ was added\ngene: COLQ was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, MIM#\t603034\nReview for gene: COLQ was set to GREEN\nAdded comment: Well established gene-disease association. Ophthalmoparesis is a feature. \nSources: Expert list",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:25:47.958948+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LMNB1 as ready",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:25:47.948555+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Green List (High Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:25:45.410346+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LMNB1 as Green List (high evidence)",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:25:45.397212+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.37",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Green List (High Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:25:32.742288+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.36",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: LMNB1 was added\ngene: LMNB1 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LMNB1 were set to OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD\nReview for gene: LMNB1 was set to GREEN\ngene: LMNB1 was marked as current diagnostic\nAdded comment: Autonomic dysfunction a common feature \nSources: Literature",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:22:33.427685+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.35",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: MADD as ready",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:22:33.419820+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.35",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:22:30.919941+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.35",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MADD as Green List (high evidence)",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:22:30.911944+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.35",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:22:20.457328+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.34",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: MADD was added\ngene: MADD was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MADD were set to OMIM# 619004 DEEAH SYNDROME; DEEAH\nReview for gene: MADD was set to GREEN\ngene: MADD was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:19:03.808367+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: PHOX2B as ready",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:19:03.797593+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Green List (High Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:19:00.513339+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: PHOX2B as Green List (high evidence)",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:19:00.504642+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.33",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Green List (High Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:18:49.405236+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.32",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: PHOX2B was added\ngene: PHOX2B was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PHOX2B were set to OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS\nReview for gene: PHOX2B was set to GREEN\ngene: PHOX2B was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:07:14.240465+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SCN9A as ready",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:07:14.231891+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Green List (High Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:07:07.109360+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SCN9A as Green List (high evidence)",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:07:07.096585+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Green List (High Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:06:55.471010+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.30",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SCN9A was added\ngene: SCN9A was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCN9A were set to 23596073\nPhenotypes for gene: SCN9A were set to OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D,\nReview for gene: SCN9A was set to GREEN\nAdded comment: Two unrelated Japanese families reported \nSources: Literature",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:57:20.611890+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.29",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: GMPPA as ready",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:57:20.600935+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.29",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Green List (High Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:57:13.360366+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.29",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: GMPPA as Green List (high evidence)",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:57:13.347593+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.29",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Green List (High Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:56:59.754110+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: GMPPA was added\ngene: GMPPA was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPA were set to # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR\nReview for gene: GMPPA was set to GREEN\ngene: GMPPA was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:51:59.099736+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:51:59.085247+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:51:56.044131+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: AAAS as Green List (high evidence)",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:51:56.032944+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:51:45.531460+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.26",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: AAAS was added\ngene: AAAS was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS\nReview for gene: AAAS was set to GREEN\ngene: AAAS was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:50:20.045305+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: WNK1 as ready",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:50:20.026330+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: wnk1 has been classified as Green List (High Evidence).",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:50:17.459906+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: WNK1 as Green List (high evidence)",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:50:17.448611+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: wnk1 has been classified as Green List (High Evidence).",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:50:03.431623+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.24",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: WNK1 was added\ngene: WNK1 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNK1 were set to # 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A\nReview for gene: WNK1 was set to GREEN\ngene: WNK1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:42:08.458840+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.23",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: ATL3 were changed from OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A to # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:41:05.132474+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ATL3 as Red List (low evidence)",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:41:05.121162+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atl3 has been classified as Red List (Low Evidence).",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:40:52.751095+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "commented on gene: ATL3: Incorrect OMIM phenotype entered in previous review. ATL3 variants not associated with autonomic dysfunction.",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:40:52.118319+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF, HSN1F; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:31:53.349710+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:27:50.946797+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SPTLC2 as ready",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:27:50.938644+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sptlc2 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:27:43.024792+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SPTLC2 as Green List (high evidence)",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:27:43.014048+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.21",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sptlc2 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:27:29.396365+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.20",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SPTLC2 was added\ngene: SPTLC2 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPTLC2 were set to OMIM# 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C\nReview for gene: SPTLC2 was set to GREEN\ngene: SPTLC2 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:26:04.231921+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.19",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ATL3 as ready",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:26:04.219981+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.19",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atl3 has been classified as Green List (High Evidence).",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:26:01.467658+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.19",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ATL3 as Green List (high evidence)",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:26:01.459101+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.19",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atl3 has been classified as Green List (High Evidence).",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:25:49.789997+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.18",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: ATL3 was added\ngene: ATL3 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: ATL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATL3 were set to OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A\nReview for gene: ATL3 was set to GREEN\ngene: ATL3 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "ATL3",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:23:14.935480+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: PRDM12 as ready",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:23:14.921663+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: prdm12 has been classified as Green List (High Evidence).",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:23:10.760896+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: PRDM12 as Green List (high evidence)",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:23:10.752167+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.17",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: prdm12 has been classified as Green List (High Evidence).",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:22:57.695180+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.16",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: PRDM12 was added\ngene: PRDM12 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM12 were set to OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8\nReview for gene: PRDM12 was set to GREEN\ngene: PRDM12 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:21:22.645133+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.15",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ELP1 as Green List (high evidence)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:21:22.629013+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.15",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Green List (High Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:21:13.386806+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.14",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:21:13.374407+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.14",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:21:00.577349+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.14",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3\nReview for gene: ELP1 was set to GREEN\ngene: ELP1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:19:23.319791+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.13",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SPTLC1 as ready",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:19:23.298272+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.13",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:19:20.072944+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.13",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SPTLC1 as Green List (high evidence)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:19:20.060525+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.13",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Green List (High Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:19:08.044659+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SPTLC1 was added\ngene: SPTLC1 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPTLC1 were set to OMIM# 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A\nReview for gene: SPTLC1 was set to GREEN\ngene: SPTLC1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:16:02.798657+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: DST as ready",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:16:02.793723+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family reported 2012",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:16:02.756064+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: dst has been classified as Red List (Low Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:15:51.238475+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DST as Red List (low evidence)",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:15:51.226982+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: dst has been classified as Red List (Low Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:15:29.369619+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.10",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: DST was added\ngene: DST was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DST were set to OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6\nReview for gene: DST was set to AMBER\ngene: DST was marked as current diagnostic\nAdded comment: single consanguineous family reported \nSources: Literature",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:13:42.117943+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RETREG1 as ready",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:13:42.110234+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: retreg1 has been classified as Green List (High Evidence).",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:13:38.988458+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RETREG1 as Green List (high evidence)",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:13:38.977441+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: retreg1 has been classified as Green List (High Evidence).",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:13:26.719453+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.8",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: RETREG1 was added\ngene: RETREG1 was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RETREG1 were set to OMIM# 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B\nReview for gene: RETREG1 was set to GREEN\ngene: RETREG1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "RETREG1",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:11:18.021609+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.7",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: SCN11A as Green List (high evidence)",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:11:18.007204+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.7",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Green List (High Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:10:43.486938+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.6",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: SCN11A as ready",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:10:43.475865+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.6",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: scn11a has been classified as Red List (Low Evidence).",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:10:28.534729+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.6",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: SCN11A was added\ngene: SCN11A was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN11A were set to OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7\nReview for gene: SCN11A was set to GREEN\ngene: SCN11A was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-11-11T16:04:08.020116+11:00",
"panel_name": "Autonomic neuropathy",
"panel_id": 3439,
"panel_version": "0.5",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NTRK1 as ready",
"entity_name": "NTRK1",
"entity_type": "gene"
}
]
}