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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1552",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1550",
"results": [
{
"created": "2020-10-07T08:36:26.134968+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from to Pfeiffer syndrome, MIM# 101600",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:36:04.511638+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:35:33.429900+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pfeiffer syndrome, MIM# 101600; Mode of inheritance: None",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:34:27.865360+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG14 as ready",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:34:27.846835+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:34:23.694421+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:34:23.683799+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:33:54.493209+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG14 were set to 30221345; 23404334; 28733338\nPhenotypes for gene: ALG14 were set to Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036\nReview for gene: ALG14 was set to GREEN\nAdded comment: Three families reported in PMID 28733338 with a neurodegenerative phenotype in infancy.\r\n\r\nNote there are 2 other families reported, one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype, no repression. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. These may all represent a spectrum of severity for a CDG. \nSources: Expert Review",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:30:22.072680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 to Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:29:33.696357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Changed phenotypes: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:29:07.889671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:28:32.935595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation; to: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. The three OMIM disorders may represent a spectrum of severity for CDG.",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:28:00.605131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:27:31.088504+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T08:26:09.767098+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG14: Added comment: Five families reported altogether. Although OMIM has assigned 3 disease entities, it is uncertain whether these are distinct, or represent a spectrum of severity for a CDG.; Changed publications: 30221345, 23404334, 28733338; Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2020-10-07T02:55:33.741329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: ; Mode of pathogenicity: None; Publications: 32720677; Phenotypes: eye and vascular development; Mode of inheritance: None",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-07T01:17:00.775088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: ROM1: Rating: ; Mode of pathogenicity: None; Publications: 32716032; Phenotypes: retinal degeneration; Mode of inheritance: None",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2020-10-07T00:36:42.764780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: BUB1B: Rating: ; Mode of pathogenicity: None; Publications: 32716490; Phenotypes: premature ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-10-06T22:20:32.256324+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T22:20:32.247600+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T22:20:17.367894+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.59",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Pfeiffer syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:57:44.085487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:12:16.169562+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACER3 as ready",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:12:16.157609+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acer3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:12:11.226332+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACER3 as Amber List (moderate evidence)",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:12:11.215881+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acer3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:11:55.595441+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACER3 was added\ngene: ACER3 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACER3 were set to 32816236; 26792856\nPhenotypes for gene: ACER3 were set to Leukodystrophy\nReview for gene: ACER3 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants, and paediatric onset progressive leukodystorphy. Functional data demonstrating ACER3 deficiency. \nSources: Literature",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:10:36.571536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACER3 as ready",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:10:36.560578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acer3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:10:29.537415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACER3 were changed from to Leukodystrophy",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:10:11.725139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACER3 were set to ",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:09:51.396874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACER3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:09:28.701776+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACER3 as Amber List (moderate evidence)",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:09:28.690715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acer3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:09:12.838357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACER3: Changed phenotypes: Leukodystrophy",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T21:08:58.215610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACER3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32816236, 26792856; Phenotypes: Leukodystrphy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:51.300331+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B2 as ready",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:51.292000+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:45.835448+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSD3B2 as Green List (high evidence)",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:45.825237+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b2 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:11.718436+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL7R as ready",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:11.708195+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il7r has been classified as Green List (High Evidence).",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:05.098842+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL7R as Green List (high evidence)",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:59:05.090549+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il7r has been classified as Green List (High Evidence).",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:58:38.234500+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:58:38.225638+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:58:31.122312+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNF4A as Green List (high evidence)",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:58:31.111830+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:57:38.888898+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRG2 as ready",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:57:38.870279+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Molecular diagnosis even in the milder phenotypes has the potential to reduce the need for investigations.",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:57:38.820958+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:56:49.209455+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRG2 were changed from vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681 to Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:56:20.344619+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRG2 were changed from Epilepsy, childhood absence with febrile seizure to vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:56:02.908898+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRG2 were set to ",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:55:47.725205+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRG2 as Amber List (moderate evidence)",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:55:47.714858+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:55:00.628299+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:55:00.619705+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:54:56.181643+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer; Fumarase deficiency to Fumurase deficiency MIM# 606812",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:54:37.116707+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:54:25.167290+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FH as Green List (high evidence)",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:54:25.156473+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:53:42.245275+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:53:42.236056+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:53:35.599321+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGFR3 as Green List (high evidence)",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:53:35.590250+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:52:30.804122+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBP1 as ready",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:52:30.789867+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp1 has been classified as Green List (High Evidence).",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:52:14.353769+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBP1 as Green List (high evidence)",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:52:14.343554+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp1 has been classified as Green List (High Evidence).",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:51:34.236259+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:51:34.227335+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:51:26.061464+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBN1 as Green List (high evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:51:26.051079+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:45.334943+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F7 as ready",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:45.324680+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f7 has been classified as Green List (High Evidence).",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:40.456350+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F7 as Green List (high evidence)",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:40.447477+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f7 has been classified as Green List (High Evidence).",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:10.896216+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F5 as ready",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:10.881337+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f5 has been classified as Green List (High Evidence).",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:50:06.271834+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F5 were changed from Risk for deep vein thrombosis to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:49:48.507821+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:49:38.513181+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F5 as Green List (high evidence)",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:49:38.500532+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f5 has been classified as Green List (High Evidence).",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:48:59.332732+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13B as ready",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:48:59.323375+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13b has been classified as Red List (Low Evidence).",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:48:53.262705+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: F13B as Red List (low evidence)",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:48:53.250242+11:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13b has been classified as Red List (Low Evidence).",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:46:15.832601+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A2 as ready",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:46:15.820620+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:46:08.435845+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL9A2 as Red List (low evidence)",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:46:08.425847+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Red List (Low Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-10-06T20:45:39.082510+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: 31090205, 21671392; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:50:58.946972+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.233",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL9A2 were set to PMID: 31090205; 21671392; 20686772; 27666725; 15802199; 15710493\nPhenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284\nReview for gene: COL9A2 was set to GREEN\nAdded comment: Bi-allelic variants have been associated with Stickler syndrome in three unrelated families. Association is supported by multiple animal models. [Modified review by ZS from Deafness_IsolatedAndComplex panel.] \nSources: Literature",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:48:47.815654+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-06T18:48:14.672681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4803",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TRPV1 were set to 29930394",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:47:52.666267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4802",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TRPV1 as Amber List (moderate evidence)",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:47:52.655362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4802",
"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": "2020-10-06T18:44:41.121800+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRPV1 as ready",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2020-10-06T18:44:41.113376+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"
}
]
}