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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1603",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1601",
"results": [
{
"created": "2020-09-07T17:58:39.076125+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F1 were set to ",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:58:16.345527+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:57:47.263517+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:53:37.684487+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD50 as ready",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:53:37.676271+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:51:18.190905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD50 as ready",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:51:18.180331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Green List (High Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:50:46.184754+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from to Nijmegen breakage syndrome-like disorder, MIM# 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:50:36.740703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from to Nijmegen breakage syndrome-like disorder, MIM# 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:50:13.106928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to ",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:50:00.754288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:49:45.855456+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to ",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:49:44.279068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:49:22.243130+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:48:40.566893+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:38:19.360662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to 31949313",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:37:56.685869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2D: Added comment: Four further individuals with KMT2D-associated neurodevelopmental syndrome reported. Features include: athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. Two of the four individuals had severe interstitial lung disease.; Changed publications: 31949313, 32083401",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:33:40.321822+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPA9 as ready",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:33:40.310381+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T17:33:36.170602+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPA9 were changed from OMIM 616854; skeletal anomalies; congenital cardiac and renal anom to Even-plus syndrome, OMIM 616854; skeletal anomalies; congenital cardiac and renal anom",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:51:49.952862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2972",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: HSPA9 as Amber List (moderate evidence)",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:51:49.942619+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2972",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:51:14.272787+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2971",
"user_name": "Sue White",
"item_type": "entity",
"text": "commented on gene: HSPA9: 2 patients with dev delay in 5 published patients with Even-plus syndrome",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:50:35.402125+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2971",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 32869452; 26598328\nPhenotypes for gene: HSPA9 were set to OMIM 616854; skeletal anomalies; congenital cardiac and renal anom\nPenetrance for gene: HSPA9 were set to Complete\nReview for gene: HSPA9 was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:34:02.981708+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPA9 as ready",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:34:02.971650+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:33:09.836122+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSPA9 as Green List (high evidence)",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:33:09.827452+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:32:46.715010+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 26598328; 32869452\nPhenotypes for gene: HSPA9 were set to Even-plus syndrome, MIM#\t616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose\nReview for gene: HSPA9 was set to GREEN\nAdded comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease \nSources: Literature",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:30:12.215649+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPA9 as ready",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:30:12.204469+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:30:09.090699+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPA9 were changed from https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose to Even-plus syndrome, MIM#\t616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:29:37.024798+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.21",
"user_name": "Sue White",
"item_type": "panel",
"text": "removed gene:HSPA9 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-07T16:29:26.877309+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HSPA9 as Green List (high evidence)",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:29:26.868600+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:28:25.194689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP58 were changed from Multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 32791035) to Multiple morphological abnormalities of the sperm flagella (MMAF)",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:28:07.845038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP58 as ready",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:28:07.829598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap58 has been classified as Green List (High Evidence).",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:27:59.058219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP58 as Green List (high evidence)",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:27:59.048797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap58 has been classified as Green List (High Evidence).",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:11:38.512779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WASHC4 as ready",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:11:38.502198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: washc4 has been classified as Green List (High Evidence).",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:11:30.965427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WASHC4 as Green List (high evidence)",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:11:30.956482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: washc4 has been classified as Green List (High Evidence).",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:11:16.359279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WASHC4 was added\ngene: WASHC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WASHC4 were set to 31953988; 21498477\nPhenotypes for gene: WASHC4 were set to Mental retardation, autosomal recessive 43, MIM #615817\nReview for gene: WASHC4 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Literature",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:09:31.876088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4258",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DNAJC7 as ready",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:09:31.866311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4258",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnajc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:09:18.635152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4258",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DNAJC7 as Amber List (moderate evidence)",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:09:18.626643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4258",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnajc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:09:03.665340+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WASHC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:08:48.859156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4257",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DNAJC7 was added\ngene: DNAJC7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNAJC7 were set to 31768050\nPhenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis\nReview for gene: DNAJC7 was set to AMBER\nAdded comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. However gene described as risk factor, unclear why.\r\n\r\nDOI: https://doi.org/10.1212/NXG.0000000000000503 \nSources: Literature",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:06:37.350925+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.52",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DNAJC7 as ready",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:06:37.339538+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.52",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnajc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:06:22.645001+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.52",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DNAJC7 as Amber List (moderate evidence)",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:06:22.634903+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.52",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dnajc7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:05:43.532289+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: WASHC4 as Green List (high evidence)",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:05:43.523705+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: washc4 has been classified as Green List (High Evidence).",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:05:40.509205+10:00",
"panel_name": "Motor Neuron Disease",
"panel_id": 25,
"panel_version": "0.51",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DNAJC7 was added\ngene: DNAJC7 was added to Motor Neuron Disease. Sources: Literature\nMode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNAJC7 were set to 31768050\nPhenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis\nReview for gene: DNAJC7 was set to AMBER\nAdded comment: Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. However gene described as risk factor, unclear why.\r\n\r\nDOI: https://doi.org/10.1212/NXG.0000000000000503 \nSources: Literature",
"entity_name": "DNAJC7",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:01:05.926362+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYT1L as ready",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:01:05.914824+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:01:03.428240+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYT1L were changed from intellectual disability; macrocephaly; epilepsy; autism to intellectual disability; macrocephaly; epilepsy; autism; Mental retardation, autosomal dominant 39, MIM#\t616521",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T16:00:15.011886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:59:57.381784+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2969",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:59:44.486571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: SVIL: Added comment: Four patients from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.; Changed rating: AMBER",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:58:59.674118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: CFAP58: Added comment: Biallelic variants reported in 5 unrelated males with nultiple morphological abnormalities of the sperm flagella (MMAF). Knockout mice were infertile.; Changed rating: GREEN; Changed publications: 32791035; Changed phenotypes: Multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 32791035); Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:58:50.384677+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.48",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Classified gene: MYT1L as Green List (high evidence)",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:58:50.374798+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.48",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:58:33.783132+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.62",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 26598328; 32869452\nPhenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose\nReview for gene: HSPA9 was set to GREEN\nAdded comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.\r\n2/5 with developmental delay and abnormalities of the corpus callosum\r\n4/5 with congenital heart disease \nSources: Literature",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:58:07.786121+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.62",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 26598328; 32869452\nPhenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose\nReview for gene: HSPA9 was set to GREEN\nAdded comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.\r\n2/5 with developmental delay and abnormalities of the corpus callosum\r\n4/5 with congenital heart disease \nSources: Literature",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:58:06.073816+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.47",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "gene: MYT1L was added\ngene: MYT1L was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYT1L were set to (PMID: 32065501)\nPhenotypes for gene: MYT1L were set to intellectual disability; macrocephaly; epilepsy; autism\nReview for gene: MYT1L was set to GREEN\nAdded comment: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. 66% in a recent cohort had seizures. 13% had macrocephaly \nSources: Literature",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:57:48.296617+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYT1L as ready",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:57:48.286504+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:57:45.222445+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYT1L were changed from to Mental retardation, autosomal dominant 39, MIM#\t616521",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:57:26.399202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "commented on gene: CFAP58",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:57:20.016587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:56:46.358681+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MYT1L.",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:56:31.456283+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2969",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: WASHC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953988; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:55:29.790107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPA9 as ready",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:55:29.779832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:55:19.745572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPA9 were changed from to Anemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM#616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:54:13.708809+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.110",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Classified gene: MYT1L as Green List (high evidence)",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:54:13.701519+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.110",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:54:08.438161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPA9 were set to ",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:42.931517+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Classified gene: MYT1L as Green List (high evidence)",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:42.893548+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:41.802819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:27.186209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4253",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: HSPA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:19.345284+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Classified gene: MYT1L as Green List (high evidence)",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:53:19.333609+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.109",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: myt1l has been classified as Green List (High Evidence).",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:44.386464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SVIL as ready",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:44.382541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two unrelated families only.",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:44.353164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svil has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:26.303848+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.20",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: HSPA9 as Green List (high evidence)",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:26.292615+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.20",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: hspa9 has been classified as Green List (High Evidence).",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:13.872047+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.19",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Achromatopsia. Sources: Literature\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 32869452; 26598328\nPhenotypes for gene: HSPA9 were set to https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose\nPenetrance for gene: HSPA9 were set to Complete\nReview for gene: HSPA9 was set to GREEN\nAdded comment: Biallelic variants cause a syndromic skeletal dysplasia with small nose, microtia and cardiac and renal malformations.\r\n2/5 have developmental delay and corpus callosum anomalies \nSources: Literature",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:52:01.370962+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.108",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "gene: MYT1L was added\ngene: MYT1L was added to Autism. Sources: Literature\nMode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYT1L were set to PMID: 32065501\nReview for gene: MYT1L was set to GREEN\nAdded comment: 9 new cases reported bringing total to 51, some of which are larger CNVs including additional genes (2p25.3 deletion syndrome). Of those with microdeletion or SNV of MYT1L only, 66.7% (12/18) had autism. \nSources: Literature",
"entity_name": "MYT1L",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:51:49.387117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SVIL as Amber List (moderate evidence)",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:51:49.379034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: svil has been classified as Amber List (Moderate Evidence).",
"entity_name": "SVIL",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:48:12.437506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2020-09-07T15:47:53.688956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: 21574244, 32764743; Phenotypes: Van der Woude Syndrome, Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP57",
"entity_type": "gene"
}
]
}