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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1348",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1346",
"results": [
{
"created": "2021-04-19T22:10:36.025626+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed publications: 23623386, 8797827, 23623389, 17183314, 29105242; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T22:08:22.342548+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:40:55.173304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:40:55.164008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:40:47.567886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:40:30.101509+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC3 were set to ",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:40:10.673196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:39:48.800124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:16:56.571342+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC3 as ready",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:16:56.561801+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc3 has been classified as Green List (High Evidence).",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:16:53.131020+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:16:25.156213+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC3 were set to ",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:16:03.083276+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T20:15:28.445630+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:28:12.366695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:27:48.799340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DAAM2: Changed phenotypes: Nephrotic syndrome, type 24, MIM# 619263, Steroid-resistant nephrotic syndrome (SRNS)",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:27:30.254008+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:26:58.913629+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 24, MIM# 619263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAAM2",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:26:20.859944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259; Paragangliomas 5 , MIM#614165",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:26:03.995223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHA as ready",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:26:03.985675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdha has been classified as Green List (High Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:23:16.516420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHA were set to ",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:22:59.095895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:22:41.896153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10976639, 27683074, 7550341, 22972948, 20551992, 21752896; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642, Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259, Paragangliomas 5 , MIM#614165; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:12:05.149539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A1 as ready",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:12:05.125766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:11:56.359352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A1 was added\ngene: SLC19A1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A1 were set to 32276275\nPhenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775\nReview for gene: SLC19A1 was set to RED\nAdded comment: Single individual reported with in-frame deletion, some functional data. \nSources: Expert list",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:10:29.977511+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A1 as ready",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:10:29.963137+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2021-04-19T16:10:23.634810+10:00",
"panel_name": "Rare anaemia_GEL",
"panel_id": 3366,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A1 was added\ngene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list\nMode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A1 were set to 32276275\nPhenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM#\t601775\nReview for gene: SLC19A1 was set to RED\nAdded comment: Single individual reported with in-frame deletion, some functional data. \nSources: Expert list",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:03:39.135627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:03:39.125317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:03:31.387204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:03:12.901649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC2 were set to ",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:02:47.479371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:02:33.371289+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:02:33.357021+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:02:29.639749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:02:13.763107+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T18:00:26.247285+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC2 were set to ",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:58:33.670690+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:58:10.533934+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:54:49.815805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC1 as ready",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:54:49.805747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:54:45.795516+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:54:02.465976+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC1 were set to ",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:53:29.567413+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:53:03.068700+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758, MONDO:0012554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:52:27.101888+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:52:11.302557+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC1 as ready",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:52:11.287787+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc1 has been classified as Green List (High Evidence).",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:51:58.336541+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:51:32.089330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, MIM# 610758 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:50:44.375236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.; to: More than three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:50:32.406120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:50:30.862100+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:49:23.856686+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC1 were set to ",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:48:55.427814+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:48:30.399526+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC1",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:44:36.341537+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD3 as ready",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:44:36.336791+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Patient identified through our service where seizures were the presenting feature.",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:44:36.303001+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:44:07.595483+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD3 as Green List (high evidence)",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:44:07.586439+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:10:19.419110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:09:53.977534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA8 were set to 32385911",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:09:27.194873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA8 as Amber List (moderate evidence)",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:09:27.184770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:09:08.774197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: NDUFA8: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:08:51.772661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA8: Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:08:06.242234+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:07:36.134262+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA8 were set to 32385911",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:07:04.160900+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA8 as Amber List (moderate evidence)",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:07:04.151438+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:06:33.211482+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:03:09.423956+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:02:59.521883+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:02:45.607748+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:02:11.272336+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T17:00:07.966987+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T16:59:38.519148+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T15:30:17.939933+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1058",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CHD3 was added\ngene: CHD3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHD3 were set to PMID: 32483341\nPhenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome MIM#618205\nReview for gene: CHD3 was set to GREEN\nAdded comment: A review of the phenotypic findings in two cohorts of Snijders Blok-Campeau syndrome patients, indicated that 16% (9/55) of patients had seizures. \nSources: Literature",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2021-04-18T14:00:29.813696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-18T14:00:09.650760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2021-04-17T19:36:32.957899+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAM20C as Green List (high evidence)",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-04-17T19:36:32.946222+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-04-17T19:36:09.841741+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. \nSources: Expert list; to: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. Aware of unpublished cases.\r\nSources: Expert list",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-04-17T19:35:57.008212+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FAM20C: Changed rating: GREEN; Changed phenotypes: Raine syndrome, MIM# 259775",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:58:50.023764+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to 21617257",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:58:24.989710+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA12 as Green List (high evidence)",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:58:24.980203+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:57:55.656515+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA12: Added comment: Additional 7 individuals from 4 families reported: several had a progressive course, one specifically described as having complete regression.; Changed rating: GREEN; Changed publications: 21617257, 33715266",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:56:07.849716+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA12 were set to 21617257",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:55:34.005175+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA12: Added comment: Additional 7 patients from 4 families reported in PMID 33715266: no corpus callosum abnormalities.; Changed publications: 21617257, 33715266",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:34:07.850200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RORC were set to 26160376",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:33:41.187493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RORC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RORC",
"entity_type": "gene"
},
{
"created": "2021-04-17T17:27:59.591726+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM10: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM10",
"entity_type": "gene"
},
{
"created": "2021-04-16T14:31:34.127669+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RPL10 as ready",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-04-16T14:31:34.112684+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rpl10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-04-16T14:31:22.783639+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RPL10 as Amber List (moderate evidence)",
"entity_name": "RPL10",
"entity_type": "gene"
}
]
}