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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1553",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1551",
"results": [
{
"created": "2020-10-06T18:44:32.848843+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRPV1 as Amber List (moderate evidence)",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:44:32.831856+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpv1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:44:24.362690+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPV1 was added\ngene: TRPV1 was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPV1 were set to 32471784\nPhenotypes for gene: TRPV1 were set to Exertional heat stroke; rhabdomyolysis\nReview for gene: TRPV1 was set to AMBER\nAdded comment: Two unrelated cases reported with rhabdomyolysis and supporting in vitro functional assays for the 2 missense variants. \nSources: Literature",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:42:28.282197+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stress episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling.; to: 3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stroke episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling.",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:42:14.844022+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TRPV1: Changed phenotypes: Malignant hyperthermia susceptibility, exertional heat stroke",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:39:06.752625+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRPV1 as Amber List (moderate evidence)",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:39:06.741925+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trpv1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:38:54.119726+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TRPV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29930394, 32471784; Phenotypes: Malignant hyperthermia susceptibility, exertional heat stress; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:07:04.317410+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: STAC3 as ready",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:07:04.306867+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stac3 has been classified as Green List (High Evidence).",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:07:00.605022+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: STAC3 as Green List (high evidence)",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:07:00.596470+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stac3 has been classified as Green List (High Evidence).",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:06:53.563047+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STAC3 was added\ngene: STAC3 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list\nMode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAC3 were set to 30168660; 32898259\nPhenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch\tMIM#255995\nReview for gene: STAC3 was set to GREEN\nAdded comment: The rarest cause of malignant hyperthermia susceptibility. Currently, MHS has only been identified with the biallelic cases with myopathy. Pathogenic variants impair skeletal muscle excitation–contraction coupling. \nSources: Expert list",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:06:31.392407+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A1 as ready",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:06:31.382544+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:06:26.849719+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL9A1 as Amber List (moderate evidence)",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:06:26.839936+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:05:58.761583+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21421862; Phenotypes: Stickler syndrome, type IV, OMIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:50:29.823002+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPV1 was added\ngene: TRPV1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature\nMode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPV1 were set to Malignant hyperthermia susceptibility",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:49:18.333251+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNB1 was added\ngene: CACNB1 was added to Malignant Hyperthermia Susceptibility. Sources: Other\nMode of inheritance for gene: CACNB1 was set to Unknown\nPhenotypes for gene: CACNB1 were set to Malignant hyperthermia susceptibility",
"entity_name": "CACNB1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:37.967097+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RYR1: Set current diagnostic: yes",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:30.113967+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CACNA1S: Set current diagnostic: yes",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:20.639156+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CACNA1S as ready",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:20.626577+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:17.421879+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNA1S as Green List (high evidence)",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:17.407300+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:47:08.476609+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1S was added\ngene: CACNA1S was added to Malignant Hyperthermia Susceptibility. Sources: Expert list\nMode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1S were set to 20301325\nPhenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5} MIM#601887\nMode of pathogenicity for gene: CACNA1S was set to Other\nReview for gene: CACNA1S was set to GREEN\nAdded comment: Gain of function variants are the second most common cause of malignant hyperthermia susceptibility. \nSources: Expert list",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:40:16.804967+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:40:16.791513+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:40:11.883804+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RYR1 as Green List (high evidence)",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:40:11.875062+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:40:01.719019+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Malignant Hyperthermia Susceptibility. Sources: Expert list\nMode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYR1 were set to 20301325\nPhenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} MIM#145600\nMode of pathogenicity for gene: RYR1 was set to Other\nReview for gene: RYR1 was set to GREEN\nAdded comment: Gain-of-function RYR1 variants are the most common cause of malignant hyperthermia \nSources: Expert list",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T17:34:56.276625+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Malignant Hyperthermia Susceptibility\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-06T17:13:18.095239+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.232",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: COL9A1 was added\ngene: COL9A1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL9A1 were set to PMID: 21421862; 16909383\nPhenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134\nReview for gene: COL9A1 was set to GREEN\nAdded comment: At least three families reported. \nSources: Literature",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:44:48.830042+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature. \nSources: Expert list; to: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature, only a milder bleeding phenotype post surgery in heterozygotes? Insufficient evidence for inclusion? \r\nSources: Expert list",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:38:58.589339+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: F13B was added\ngene: F13B was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: F13B were set to PMID: 31013569\nPhenotypes for gene: F13B were set to Factor XIIIB deficiency MIM# 613235\nReview for gene: F13B was set to RED\nAdded comment: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature. \nSources: Expert list",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:29:53.416309+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27351627; Phenotypes: Factor V deficiency MIM# 227400, Thrombophilia due to activated protein C resistance MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:24:00.316247+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: F7 was added\ngene: F7 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500\nReview for gene: F7 was set to GREEN\nAdded comment: Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity. Not reviewed by Babyseq, included in NC NEXUS list. Bleeding treatable with factor replacement. \nSources: Expert list",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:21:47.985712+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: multiple; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:20:23.807587+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: FBP1 was added\ngene: FBP1 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700\nReview for gene: FBP1 was set to GREEN\nAdded comment: Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis. No reviewed by Babyseq, included in NC NEXUS. \nSources: Expert list",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:17:33.260004+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:15:29.063386+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumurase deficiency MIM# 606812, Leiomyomatosis and renal cell cancer MIM# 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:09:25.661644+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27864268; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681, Epileptic encephalopathy, early infantile, 74 MIM# 618396, Febrile seizures, familial, 8 MIM# 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:09:09.260428+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:09:09.249608+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:09:06.254332+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 to Hyperinsulinemic hypoglycemia, familial, 4",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:52.543991+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HADH as Green List (high evidence)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:52.535124+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:15.049194+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIF as ready",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:15.037676+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:09.908116+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GIF as Green List (high evidence)",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:08:09.894426+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gif has been classified as Green List (High Evidence).",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:07:57.984471+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:07:24.439333+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GGCX as ready",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:07:24.428708+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggcx has been classified as Green List (High Evidence).",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:07:20.226899+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GGCX as Green List (high evidence)",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:07:20.212139+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ggcx has been classified as Green List (High Evidence).",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:06:45.157146+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:06:45.145393+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:06:40.107364+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA2 as Green List (high evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:06:40.097112+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:06:27.324996+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21 MIM# 614172, Emberger syndrome MIM# 614038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-10-06T14:01:52.996333+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.101",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA2 were set to PMID: 25397911, 30047422\nPhenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038\nReview for gene: GATA2 was set to AMBER\nAdded comment: Gene not curated by Babyseq, included in NC NEXUS. This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Allelic disease with phenotypic overalp lymphoedema with SNHL (Emberger syndrome). Onset of immunodeficiency may not be until later childhood early adulthood. \nSources: Expert list",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:38:45.115075+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAST1 as ready",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:38:45.100170+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mast1 has been classified as Green List (High Evidence).",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:38:38.895857+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAST1 were changed from OMIM#618273 to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:38:11.672729+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAST1 as Green List (high evidence)",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:38:11.663016+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mast1 has been classified as Green List (High Evidence).",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:37:40.528375+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:35:27.837021+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 individuals reported.; to: More than 10 individuals reported with PMG.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:35:10.393159+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:35:10.356791+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:35:07.679181+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from OMIM#605309 to Macrocephaly/autism syndrome, MIM# 605309",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:34:37.417944+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T13:34:37.409596+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:55:00.216104+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32959437; Phenotypes: Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:53:16.649436+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED25 as ready",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:53:16.639785+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:50:41.029392+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED25 were changed from OMIM#616449 to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:50:18.229626+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED25 as Amber List (moderate evidence)",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:50:18.212511+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T12:49:07.888692+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: None; Publications: 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T10:53:02.906631+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.146",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "gene: MAST1 was added\ngene: MAST1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 32818970; 30449657\nPhenotypes for gene: MAST1 were set to OMIM#618273\nReview for gene: MAST1 was set to GREEN\nAdded comment: Tripathy et al. (PMID:30449657) describe cortical malformation as dysgyria but images consistent with PMG. \nSources: Literature",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2020-10-06T10:32:24.373570+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.146",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTEN were set to 32959437\nPhenotypes for gene: PTEN were set to OMIM#605309\nReview for gene: PTEN was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-10-06T10:14:49.782978+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.146",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "gene: MED25 was added\ngene: MED25 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED25 were set to 32324310; 32816121\nPhenotypes for gene: MED25 were set to OMIM#616449\nReview for gene: MED25 was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2020-10-06T09:54:07.032785+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-10-06T09:54:07.020518+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-10-06T09:54:01.316456+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-10-06T09:54:01.307567+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-10-06T09:53:34.552977+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 31846209; 31282990; 32773771\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM#\t147920\nReview for gene: KMT2D was set to GREEN\nAdded comment: Three case reports of HPE in Kabuki syndrome. Association also observed internally, PMID 32773771. \nSources: Literature",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-10-05T21:26:02.578308+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.101",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: GGCX was added\ngene: GGCX was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450\nReview for gene: GGCX was set to GREEN\nAdded comment: Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Can cause fatal haemmorhage in the first few weeks of life. Non reviewed by Babyseq, included in NC NEXUS list. \nSources: Expert list",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2020-10-05T21:17:46.441080+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.101",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: GIF was added\ngene: GIF was added to Newborn Screening_BabySeq. Sources: Expert list\nMode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIF were set to Intrinsic factor deficiency # 261000\nAdded comment: Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia. Childhood onset disease treatable with B12 injections. Not reviewed by Babyseq, on NC NEXUS list. \nSources: Expert list",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:52:51.298767+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKNA: Rating: RED; Mode of pathogenicity: None; Publications: 32367404; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:48:09.781373+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to 20170897",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:47:19.999618+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITCH: Changed publications: 20170897, 32367404",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:41:52.196445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NUAK2: no OMIM# yet",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:41:39.342677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUAK2: Changed phenotypes: Anencephaly",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:41:22.717579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUAK2 were changed from ANENCEPHALY (OMIM#206500) to Anencephaly",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:40:28.933736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUAK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2020-10-05T20:40:11.919688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NUAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUAK2",
"entity_type": "gene"
}
]
}