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{
"count": 220487,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1278",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1276",
"results": [
{
"created": "2021-07-06T08:49:25.492088+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:48:57.080305+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1L were set to ",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:48:33.755858+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:48:02.789082+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPGRIP1L: Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:44:55.669224+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:44:55.658988+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:44:53.011265+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:44:30.025637+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:43:59.394882+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:43:10.063705+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PKD2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-06T08:42:54.743944+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PKD1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-06T08:41:58.617481+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2021-07-05T21:00:07.125505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP4 as ready",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T21:00:07.114823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Green List (High Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:59:58.827708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:59:32.899004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP4 were set to ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:59:13.793701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:58:45.334560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:57:47.954288+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP4 as ready",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:57:47.944948+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp4 has been classified as Green List (High Evidence).",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:57:25.247686+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:56:44.361582+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP4 were set to ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:56:20.574276+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:55:56.000412+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:53:03.534482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP1 as ready",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:53:03.516843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Green List (High Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:52:54.525692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:52:32.911457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP1 were set to ",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:52:12.007284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:51:51.319128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NPHP1.",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:51:36.753570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15138899, 32139166, 28347285, 8852662, 9856524; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:51:14.924962+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP1 as ready",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:51:14.915048+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp1 has been classified as Green List (High Evidence).",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:51:01.364904+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:50:20.123627+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NPHP1 were set to ",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:47:17.425517+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:46:45.291904+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS.; to: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS. Deletions common.",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T20:46:30.284065+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NPHP1: Changed publications: 15138899, 32139166, 28347285, 8852662, 9856524; Changed phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2021-07-05T17:43:49.286450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIE1 as ready",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-07-05T17:43:49.277763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tie1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-07-05T17:39:49.116671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIE1 as Amber List (moderate evidence)",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-07-05T17:39:49.107702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tie1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-07-05T17:39:32.068978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIE1 was added\ngene: TIE1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIE1 were set to 32947856; 24764452\nPhenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401\nReview for gene: TIE1 was set to AMBER\nAdded comment: Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad. \nSources: Literature",
"entity_name": "TIE1",
"entity_type": "gene"
},
{
"created": "2021-07-05T16:23:22.253909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: KIF1B: Rating: RED; Mode of pathogenicity: None; Publications: 33710394; Phenotypes: Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KIF1B",
"entity_type": "gene"
},
{
"created": "2021-07-05T16:04:47.937860+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KIF1B was added\ngene: KIF1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1B were set to 33710394\nPhenotypes for gene: KIF1B were set to Hypotonia; coloboma; hypoplasia of the corpus callosum; severe neurodevelopmental delay\nReview for gene: KIF1B was set to RED\ngene: KIF1B was marked as current diagnostic\nAdded comment: Compound heterozygous missense variants reported in a woman with severe hypotonia, hypsarrhythmia, coloboma, hypoplasia of corpus callosum, severe neurodevelopmental delay. \nSources: Literature",
"entity_name": "KIF1B",
"entity_type": "gene"
},
{
"created": "2021-07-05T16:04:29.862887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: NUF2 was added\ngene: NUF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NUF2 were set to PMID: 33721060\nPhenotypes for gene: NUF2 were set to microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect\nReview for gene: NUF2 was set to RED\nAdded comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect. \nSources: Literature",
"entity_name": "NUF2",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:58:27.358818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ERGIC3 was added\ngene: ERGIC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ERGIC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERGIC3 were set to PMID: 33710394; 31585110\nPhenotypes for gene: ERGIC3 were set to Intellectual disability\nReview for gene: ERGIC3 was set to AMBER\nAdded comment: PMID: 33710394 - two homozygous sibs with mild ID, a novel canonical splice (c.717+1G>A). Absent in gnomAD, no splice studies. Classed as a VUS.\r\n\r\nPMID: 31585110 - 1 hom (p.Gln233Argfs*10) in a male 8yo with Growth retardation, Microcephaly, Learning disability, Facial dysmorphism, Abnormal pigmentation. \nSources: Literature",
"entity_name": "ERGIC3",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:53:19.747736+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.279",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32355443; Phenotypes: Cataract 18 (MIN#610019) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:47:23.290640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33824468; Phenotypes: Huntington disease-like 2 (MIM#606438) AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:45:36.275637+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Missense variant reported de novo in a patient with mild ID. Patient also had a COL9A2 variant and skeletal features. \nSources: Literature; to: Missense variant reported de novo in a patient with mild ID reported in a cohort study, Patient also had a COL9A2 variant and skeletal features. Authors referred to it as an extended phenotype and dual diagnosis.\r\nSources: Literature",
"entity_name": "MYT1",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:42:57.495512+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MYT1 was added\ngene: MYT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYT1 were set to 33710394\nPhenotypes for gene: MYT1 were set to Intellectual disability\nReview for gene: MYT1 was set to RED\ngene: MYT1 was marked as current diagnostic\nAdded comment: Missense variant reported de novo in a patient with mild ID. Patient also had a COL9A2 variant and skeletal features. \nSources: Literature",
"entity_name": "MYT1",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:42:14.871625+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:41:44.497673+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:41:38.331807+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:41:19.885261+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)\r\n- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)\r\n- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:38:54.458241+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: - six individuals with de novo missense variants\r\n- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity; to: - sixteen individuals with de novo or inherited variants (1 variant was mosaic)\r\n- Mutant constructs transfected into COS-1 cells demonstrated impaired NKA-pump activity",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:34:52.683683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: HEATR5B was added\ngene: HEATR5B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEATR5B were set to PMID: 33824466\nPhenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia\nReview for gene: HEATR5B was set to AMBER\nAdded comment: Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. \r\n\r\nTwo homozygous splice variants were reported ((c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated\r\nwith reduced levels of HEATR5B protein. \r\n\r\nHomozygous knockout mice were not viable. \r\n\r\n*NOTE: gene (and alias) not found in OMIM \nSources: Literature",
"entity_name": "HEATR5B",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:31:56.591732+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33880529; Phenotypes: developmental and epileptic encephalopathy, early or neonatal onset seizures, polymicrogyria; Mode of inheritance: None",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:29:44.160081+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21734151, 33710394; Phenotypes: Mental retardation, autosomal recessive 56 MIM#617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZC3H14",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:28:12.381920+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SAMD9L: Changed publications: 33710394",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2021-07-05T15:27:47.872163+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SAMD9L was added\ngene: SAMD9L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SAMD9L were set to Intellectual disability\nReview for gene: SAMD9L was set to RED\ngene: SAMD9L was marked as current diagnostic\nAdded comment: Missense variant reported de novo in a patient with moderate ID, in a large cohort study. Author described it as a phenotype expansion as ataxia-pancytopenia not found in that patient. \nSources: Literature",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:43:33.302372+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK8 as ready",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:43:33.292594+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:43:29.533759+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:43:11.468682+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK8 were set to ",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:42:41.980873+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:42:11.651562+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:37.611471+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK8 as ready",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:37.602291+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:31.464201+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:20.850245+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK8 were set to ",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:11.129007+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK8 as Green List (high evidence)",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:11.116668+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:41:00.602371+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:40:12.320062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK8 as ready",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:40:12.308139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:40:05.062682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:39:45.567360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK8 were set to ",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:39:29.099667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:39:11.365789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:38:32.500217+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK8 as ready",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:38:32.491258+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek8 has been classified as Green List (High Evidence).",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:38:29.566820+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:38:03.769470+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK8 were set to ",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:37:45.234127+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:37:10.406150+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:21:55.058744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:21:55.045289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Green List (High Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:21:47.633509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:21:28.061443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:21:00.322832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:20:39.673670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326, 10973251; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:19:03.693420+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKKS as ready",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:19:03.683173+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkks has been classified as Green List (High Evidence).",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:18:53.730942+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:18:10.501223+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MKKS were set to ",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:11:11.506145+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T19:10:39.117959+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2021-07-04T15:29:08.641522+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQCB1 as ready",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2021-07-04T15:29:08.630832+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqcb1 has been classified as Green List (High Evidence).",
"entity_name": "IQCB1",
"entity_type": "gene"
}
]
}