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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1910",
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"results": [
{
"created": "2020-03-05T15:01:15.686810+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:00:40.845524+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least three families reported.; to: At least three families reported. In the original report, the affected individual was phenotypically normal until 9 years of age but had rapidly progressive multi-system disease.",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2020-03-05T15:00:10.309546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFS3: Changed rating: AMBER",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:58:09.143154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS2 as Amber List (moderate evidence)",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:58:09.134441+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:57:36.009856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder..; to: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder.",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:57:28.102029+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families.; to: Multiple unrelated families. Phenotype in one family was more consistent with regression; in another family severe neonatal lactic acidosis led to death in the first few days of life; and in the third family presentation was with failure to thrive, vomiting, nystagmus, and specifically normal cognition despite delayed motor milestones due to hypotonia. Limited clinical information reported in other papers therefore difficult to know whether ID is likely to be the presenting or main feature of this mitochondrial disorder..",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:54:14.843946+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFS2: Changed rating: AMBER",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:47:20.830323+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBR1 as ready",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:47:20.820885+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbr1 has been classified as Red List (Low Evidence).",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:47:17.945491+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:46:49.138872+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBR1 were set to ",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:46:22.167617+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:45:58.864844+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBR1 as Red List (low evidence)",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:45:58.851286+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbr1 has been classified as Red List (Low Evidence).",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:45:28.709060+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBR1: Rating: RED; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:41:05.355774+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBR1 as ready",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:41:05.342832+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbr1 has been classified as Green List (High Evidence).",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:34:53.968766+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:32:45.867456+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBR1 were set to ",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:32:22.276779+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:31:51.400030+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:30:54.212182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBR1 as ready",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:30:54.203377+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbr1 has been classified as Green List (High Evidence).",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:30:49.378678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:29:37.367991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBR1 were set to ",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:29:09.382775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:28:35.823152+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:27:34.324493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBR1 as ready",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:27:34.311335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbr1 has been classified as Green List (High Evidence).",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:26:57.718156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:26:38.290586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBR1 were set to ",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:26:25.767974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:25:42.732283+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRHR as ready",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:25:42.719090+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrhr has been classified as Green List (High Evidence).",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:23:17.519834+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNRHR were changed from to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:22:46.526528+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNRHR were set to ",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:22:17.285459+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:21:46.516354+11:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28348023, 9371856; Phenotypes: Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:20:05.678853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRHR as ready",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:20:05.669496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrhr has been classified as Green List (High Evidence).",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:19:47.359027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNRHR were changed from to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:19:26.152263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNRHR were set to ",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:19:12.208467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:18:13.770850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS1 as ready",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:18:13.756788+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:18:07.522286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:17:46.502989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:17:27.864487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to 20382551",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:17:09.091901+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS1 were set to ",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:16:43.739842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:16:16.689460+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:15:43.919002+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20382551; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:13:17.281377+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB3 as Amber List (moderate evidence)",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:13:17.268607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:12:43.728936+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ten families and functional data.; to: Ten families and functional data. In particular, the 8 families of shared Irish ancestry only had short stature and dysmorphic features, without marked metabolic disturbance. One of the other reported individuals died in infancy, again making it difficult to know whether ID would have been part of the phenotype.",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:10:33.524918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB3: Changed rating: AMBER",
"entity_name": "NDUFB3",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:07:26.836062+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFAF6 as Amber List (moderate evidence)",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:07:26.826938+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:06:53.357112+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families reported.; to: Multiple unrelated families reported. Presentation in one family was with lactic acidosis in newborn period, and in another with regression in childhood. Limited phenotypic information for others. Unclear if and in what proportion of affected individuals ID is likely to be the main or presenting feature.",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:05:44.322779+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF6: Changed rating: AMBER; Changed publications: 26741492, 18614015, 27623250",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:01:22.525277+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF5 as ready",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:01:22.511569+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:01:18.249711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:00:45.506085+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF5 were set to ",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T14:00:14.934073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:59:34.401341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFAF5 as Amber List (moderate evidence)",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:59:34.392792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:58:59.010987+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: None; Publications: 19542079, 21607760, 18940309; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:53:01.250260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFAF4 as Amber List (moderate evidence)",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:53:01.236608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:52:24.862127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families and functional data.; to: Two unrelated families and functional data. Multiple affected individuals in one family (18179882) presented in newborn period with marked lactic acidosis, one long-term survivor (7yo at assessment) had profound ID. Individual from second family (28853723) presented in infancy with dev delay. Borderline gene-disease association for mitochondrial disease, and unclear what proportion of individuals are likely to present/manifest as ID.",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:50:00.640123+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF4: Changed rating: AMBER",
"entity_name": "NDUFAF4",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:38:45.494532+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFAF3 as Amber List (moderate evidence)",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:38:45.485844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:38:12.403746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, severe neonatal presentation with lactic acidosis, seizures, and need for respiratory support. ID is unlikely to be the presenting or main feature.",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:37:28.496146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF3: Changed rating: AMBER",
"entity_name": "NDUFAF3",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:34:42.302631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFAF2 as Amber List (moderate evidence)",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:34:42.289286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:34:09.365445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least four unrelated families reported.; to: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. ID is unlikely to be the presenting or main feature.",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:32:33.722853+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF2: Changed rating: AMBER",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:32:23.273602+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFAF2: Changed publications: 20571988",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:23:51.975647+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families described, DD/ID part of the phenotype.; to: Three unrelated families described, DD/ID part of the phenotype, specifically mentioned in two families, child in third family died in infancy from HOCM.",
"entity_name": "NDUFAF1",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:21:12.759207+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA9 as Amber List (moderate evidence)",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:21:12.746417+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:20:40.956543+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families and functional data. Broad spectrum, likely to include ID.; to: Two unrelated families and functional data. Broad spectrum, likely to include ID but that is yet to be established.",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-03-05T13:20:24.253031+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA9: Changed rating: AMBER",
"entity_name": "NDUFA9",
"entity_type": "gene"
},
{
"created": "2020-03-05T10:41:38.087345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1627",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28348023, 9371856; Phenotypes: Hypogonadotropic hypogonadism 7 without anosmia, 146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-03-05T10:32:49.970634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1627",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2020-03-04T16:12:41.204186+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA10 as Amber List (moderate evidence)",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2020-03-04T16:12:41.191094+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2020-03-04T16:12:08.500520+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2020-03-04T16:12:00.851731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFA10: Added comment: Two families, functional data, but phenotypic description only available for one (DD/ID part of the phenotype).; Changed rating: AMBER",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:51:34.079138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO9A as ready",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:51:34.070359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Green List (High Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:51:26.389325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO9A were changed from to Congenital myasthenic syndrome 24, presynaptic, MIM# 618198",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:51:14.427799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO9A were set to ",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:50:59.477691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYO9A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:50:37.528924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26752647, 27259756; Phenotypes: Congenital myasthenic syndrome 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2020-03-04T15:49:42.856493+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO9A were set to 6752647; 27259756",
"entity_name": "MYO9A",
"entity_type": "gene"
}
]
}