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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1570",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1568",
"results": [
{
"created": "2020-09-28T18:58:43.044206+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:58:39.913550+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:58:12.058072+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:57:41.262104+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:42:59.093315+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSND as ready",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:42:59.078410+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsnd has been classified as Green List (High Evidence).",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:42:55.939858+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSND were changed from to Sensorineural deafness with mild renal dysfunction, MIM# 602522; Bartter syndrome, type 4a, MIM# 602522",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:42:27.679657+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BSND were set to ",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:42:00.287209+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:41:31.352923+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646679; Phenotypes: Sensorineural deafness with mild renal dysfunction, MIM# 602522, Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:37:22.846978+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCS1L as ready",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:37:22.837332+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Green List (High Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:37:20.669635+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:36:49.524455+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCS1L were set to ",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:36:09.549836+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T18:35:38.790236+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 24172246, 17314340; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-09-28T17:29:23.466313+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GCM2 was changed from None to Other",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:50:23.224289+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CDKN1B as ready",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:50:23.210607+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:50:11.750774+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Green List (high evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:50:11.736330+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:49:53.751708+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Green List (high evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:49:53.734462+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.12",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:48:40.296705+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.11",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CDKN1B was added\ngene: CDKN1B was added to Hypercalcaemia. Sources: Literature\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDKN1B were set to 24819502; 17030811; 23555276\nPhenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755\nReview for gene: CDKN1B was set to GREEN\ngene: CDKN1B was marked as current diagnostic\nAdded comment: More than 3 unrelated individuals reported. \nSources: Literature",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:41:35.118762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCM2 as ready",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:41:35.106703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:41:28.748601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCM2 were changed from to Hyperparathyroidism 4, OMIM #617343",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:41:12.721314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GCM2 were set to ",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:40:56.672828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GCM2 was changed from to Other",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:40:41.537506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:40:24.906304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GCM2: Changed mode of pathogenicity: Other",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:40:15.284379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745835; Phenotypes: Hyperparathyroidism 4, OMIM #617343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:37:37.451298+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13A1 as ready",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:37:37.437175+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13a1 has been classified as Green List (High Evidence).",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:37:22.610331+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F13A1 as Green List (high evidence)",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:37:22.594028+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13a1 has been classified as Green List (High Evidence).",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:37:11.952765+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F13A1 was added\ngene: F13A1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM#\t613225\nReview for gene: F13A1 was set to GREEN\nAdded comment: Congenital disorder, treatable. \nSources: Expert list",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:36:12.248891+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.10",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: GCM2 as ready",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:36:12.237761+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.10",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:57.719320+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.10",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: GCM2 as Green List (high evidence)",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:57.709315+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.10",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gcm2 has been classified as Green List (High Evidence).",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:26.101236+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F10 as ready",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:26.088737+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Green List (High Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:18.678743+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F10 as Green List (high evidence)",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:18.668228+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f10 has been classified as Green List (High Evidence).",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:12.243096+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.9",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: GCM2 was added\ngene: GCM2 was added to Hypercalcaemia. Sources: Literature\nMode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GCM2 were set to 27745835\nPhenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343\nPenetrance for gene: GCM2 were set to unknown\nReview for gene: GCM2 was set to GREEN\nAdded comment: 7 unrelated kindreds with causative variants identified. Functional studies demonstrated gain-of-function/activating mutations \nSources: Literature",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:35:07.748839+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: F10 was added\ngene: F10 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F10 were set to Factor X deficiency, MIM#\t227600\nReview for gene: F10 was set to GREEN\nAdded comment: Established gene-disease association, congenital disorder which is treatable. \nSources: Expert list",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:32:30.467344+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUOXA2 as ready",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:32:30.458524+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duoxa2 has been classified as Green List (High Evidence).",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:32:26.917626+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUOXA2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 5, MIM# 274900",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:32:13.792239+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUOXA2 as Green List (high evidence)",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:32:13.783516+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: duoxa2 has been classified as Green List (High Evidence).",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:32:01.557780+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Evidence for gene-disease association assessed as moderate.; to: Evidence for gene-disease association assessed as moderate. However, treatment available.",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:30:17.314889+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DUOXA2: Changed rating: GREEN",
"entity_name": "DUOXA2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:28:03.931803+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRA as ready",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:28:03.927943+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Included in this panel as TFTs potentially suggestive of hyperthyroidism – elevated T3, non-suppressed TSH, even though the associated condition is hypothyroidism.",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:28:03.897051+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thra has been classified as Green List (High Evidence).",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:26:19.627371+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:26:19.616673+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:26:17.218055+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A2 were changed from MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; mental retardation, X-linked, with hypotonia; Allan-Herndon-Dudley syndrome; ALLAN-HERNDON SYNDROME; T3 RESISTANCE; AHDS; ALLAN-HERNDON-DUDLEY SYNDROME; MENTAL RETARDATION AND MUSCULAR ATROPHY; Monocarboxylate transporter 8 (MCT8) defect; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon-Dudley syndrome, 300523; monocarboxylate transporter 8 (MCT8) deficiency; Allan-Herndon-Dudley Syndrome; 300523; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan_Herndon_Dudley Syndrome to Allan-Herndon-Dudley syndrome, MIM#\t300523",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:25:32.218442+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A2 were set to 24847459",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:24:34.825676+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRA as ready",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:24:34.814483+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thra has been classified as Green List (High Evidence).",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:23:17.087997+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THRA were changed from Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa); Hypothyroidism, congenital, nongoitrous, 6, 614450; congenital nongoitrous hypothyroidism 6; RTH alpha; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; Resistance to thyroid hormone alpha; CHNG6 to Hypothyroidism, congenital, nongoitrous, 6\t614450",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:22:18.195537+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: THRA was changed from to Other",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:21:26.682448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SECISBP2 as ready",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:21:26.672617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Green List (High Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:21:19.644101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SECISBP2 were changed from to Thyroid hormone metabolism, abnormal, MIM# 609698",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:20:59.287175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SECISBP2 were set to ",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:20:37.260696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SECISBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:20:19.421772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16228000, 19602558, 21084748, 22247018; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:19:20.727449+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SECISBP2 as ready",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:19:20.709323+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Green List (High Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:19:17.973011+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SECISBP2 were changed from Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism to Thyroid hormone metabolism, abnormal, MIM#\t609698",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:18:54.678314+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:17:54.963130+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SECISBP2 as ready",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:17:54.952392+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Red List (Low Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:17:38.935501+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SECISBP2 as Red List (low evidence)",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:17:38.923013+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: secisbp2 has been classified as Red List (Low Evidence).",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:01:36.967013+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3026",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: SECISBP2 was added\ngene: SECISBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SECISBP2 were set to 16228000; 19602558; 21084748; 22247018\nPhenotypes for gene: SECISBP2 were set to #609698 THYROID HORMONE METABOLISM, ABNORMAL\nPenetrance for gene: SECISBP2 were set to unknown\nReview for gene: SECISBP2 was set to RED\nAdded comment: Multiple families with biallelic loss of function variants have been reported with a disorder of thyroid hormone metabolism involving synthesis of selenoproteins. Features include short stature with delayed bone age, muscle weakness with fatty infiltration of skeletal muscle, azoospermia, and mild developmental delay. Photosensitivity and high frequency SNHL have been reported. Thyroid function tests show elevated FT4 and rT3, low FT3 and normal or mildly elevated TSH. Incomplete loss of SECISBP2 function has been hypothesized to cause a milder phenotype.\r\n\r\nAt least two reports of children with delayed milestones.\r\nOne report of an affected adult with mild ID. \r\nFurther reports may clarify if this phenotype typically includes ID. \nSources: Literature",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:56:53.665636+10:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.8",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16228000, 19602558, 21084748, 22247018; Phenotypes: #609698 THYROID HORMONE METABOLISM, ABNORMAL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:39:53.933914+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: SBMA as ready",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2020-09-28T15:39:53.926026+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: sbma has been classified as Green List (High Evidence).",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2020-09-28T15:35:48.872828+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJB2 as ready",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:35:48.863999+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb2 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:35:45.373062+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB2 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:35:16.694188+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:53.895899+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IYD as ready",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:53.892271+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: More than 4 families reported, treatable disorder.",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:53.865001+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iyd has been classified as Green List (High Evidence).",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:42.792813+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 4, MIM# 274800",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:27.049409+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IYD were set to ",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:09.014913+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IYD as Green List (high evidence)",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:28:09.004167+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iyd has been classified as Green List (High Evidence).",
"entity_name": "IYD",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:25:54.544962+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF6 as ready",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:25:54.536193+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Green List (High Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:25:50.996924+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF6 were changed from van der Woude syndrome; Popliteal pterygium syndrome to van der Woude syndrome MIM# 119300",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:25:31.967199+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF6 as Green List (high evidence)",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:25:31.956558+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Green List (High Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:25:03.065854+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INS as ready",
"entity_name": "INS",
"entity_type": "gene"
}
]
}