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{
"count": 214455,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=2",
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"results": [
{
"created": "2024-04-25T20:25:28.699558Z",
"panel_name": "Breast cancer pertinent cancer susceptibility",
"panel_id": 55,
"panel_version": "2.8",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PHTS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-04-25T12:11:16.647352Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.94",
"user_name": "Melissa Connolly",
"item_type": "entity",
"text": "reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555216, Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; Phenotypes: Short stature, dysmorphism, mild microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2024-04-25T12:09:49.509730Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.94",
"user_name": "Melissa Connolly",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2024-04-25T12:09:10.787174Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.94",
"user_name": "Melissa Connolly",
"item_type": "entity",
"text": "reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555216, Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; Phenotypes: Short stature, frontal bossing, prognathism, juvenile cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAPPA2",
"entity_type": "gene"
},
{
"created": "2024-04-25T09:51:20.285132Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: COASY as Amber List (moderate evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-25T09:51:20.278765Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence available for promoting this gene to green rating in the next GMS review.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-25T09:51:20.251847Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: coasy has been classified as Amber List (Moderate Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-25T09:49:43.163079Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; Pontocerebellar hypoplasia, type 12, OMIM:618266; arthrogryposis, MONDO:0008779",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-25T09:49:07.888276Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: COASY.\nTag Q2_24_NHS_review tag was added to gene: COASY.",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-25T09:48:40.674252Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089828, 35499143, 36495139; Phenotypes: Neurodegeneration with brain iron accumulation 6, OMIM:615643, Pontocerebellar hypoplasia, type 12, OMIM:618266, arthrogryposis, MONDO:0008779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:09:04.587086Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: PIP5K1C were changed from Lethal congenital contractural syndrome 3 611369 to Lethal congenital contractural syndrome 3, OMIM:611369",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:08:53.195602Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.28",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: PIP5K1C were set to 17701898",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:08:37.635319Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: PIP5K1C as Amber List (moderate evidence)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:08:37.626894Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As there are three unrelated cases with biallelic variants (two unrelated cases with the same homozygous variant and two foetuses from one family with compound heterozygous variants), this gene can be promoted to green rating in the next GMS update.",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:08:37.555182Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.27",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: pip5k1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:06:39.294247Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: PIP5K1C.\nTag Q2_24_NHS_review tag was added to gene: PIP5K1C.",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T18:06:16.824974Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:44:33.103780Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31794073; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866, ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP4",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:28:16.731146Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.26",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: COASY were set to 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:16:44.466255Z",
"panel_name": "Ectodermal dysplasia",
"panel_id": 553,
"panel_version": "3.29",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: TWIST2 was added\ngene: TWIST2 was added to Ectodermal dysplasia. Sources: Expert Review\nMode of inheritance for gene: TWIST2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWIST2 were set to Focal facial dermal dysplasia 3, Setleis type\nReview for gene: TWIST2 was set to GREEN\nAdded comment: Included as differential for ectodermal dysplasia \nSources: Expert Review",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:12:03.699463Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: SLC18A3 as Amber List (moderate evidence)",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:12:03.690101Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, PMID:34943989 reports an additional patient with compound heterozygous variants in SLC18A3 gene and presenting with arthrogryposis congenital (AMC). Hence, there is sufficient evidence available for promoting this gene to green rating in the next GMS review.",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:12:03.651719Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.25",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: slc18a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:09:08.089204Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_24_promote_green tag was added to gene: SLC18A3.\nTag Q2_24_NHS_review tag was added to gene: SLC18A3.",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:08:46.814327Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: SLC18A3: Changed phenotypes to: Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239, arthrogryposis, MONDO:0008779",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:08:28.351494Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: SLC18A3 were changed from Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; arthrogryposis, MONDO:0008779",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:07:34.532933Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T17:07:08.762782Z",
"panel_name": "Arthrogryposis",
"panel_id": 258,
"panel_version": "5.22",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:44:19.659200Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3 613803; Meier-Gorlin syndrome 3\t613803 to Meier-Gorlin syndrome 3, OMIM:613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:44:17.740264Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.544",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3, 613803 to Meier-Gorlin syndrome 3, OMIM:613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:44:01.930487Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.164",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from MEIER-GORLIN SYNDROME 3 to Meier-Gorlin syndrome 3, OMIM:613803",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:43:40.764359Z",
"panel_name": "Deafness and congenital structural abnormalities",
"panel_id": 251,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from Bilateral Microtia; 613803; Meier-Gorlin EPS; causes syndromic features; Meier-Gorlin syndrome 3 to Meier-Gorlin syndrome 3, OMIM:613803; Bilateral Microtia",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:43:24.155795Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to Meier-Gorlin syndrome 3, OMIM:613803; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:42:42.399861Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.82",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ORC6 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 3, 613803 to Meier-Gorlin syndrome 3, OMIM:613803; Microcephalic primordial dwarfism",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:41:15.733630Z",
"panel_name": "Insulin resistance (including lipodystrophy)",
"panel_id": 174,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II\t210720; Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2; Severe Insulin Resistance to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Insulin resistance, HP:0000855",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:50.407699Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:43.072005Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "4.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:35.625218Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:21.383641Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "3.88",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:18.800844Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.163",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:15.932178Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.543",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 -3; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:40:00.880721Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.94",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:39:05.711288Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from MPD; microcephalic primordial dwarfism; Microcephalic Osteodysplastic Primordial Dwarfism; Microcephalic osteodysplastic primordial dwarfism, type II, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Microcephalic primordial dwarfism",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:37:26.251948Z",
"panel_name": "Retinal disorders",
"panel_id": 307,
"panel_version": "4.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651 to Lowry-Wood syndrome, OMIM:226960; Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:36:53.864431Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.542",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Gene2Phenotype confirmed gene with ID HPO to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:35:53.017710Z",
"panel_name": "Early onset or syndromic epilepsy",
"panel_id": 402,
"panel_version": "4.196",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I 210710 to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:34:55.117060Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.93",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from MOPD I to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:34:20.935844Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.162",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:34:05.706301Z",
"panel_name": "Cytopenia - NOT Fanconi anaemia",
"panel_id": 519,
"panel_version": "3.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Roifman syndrome, 616651; Microcephalic osteodysplastic primordial dwarfism, type I, 210710 to Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:33:46.340059Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome to Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:33:37.869745Z",
"panel_name": "Inherited bleeding disorders",
"panel_id": 175,
"panel_version": "1.178",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Platelet disorder; Roifman Syndrome with thrombocytopenia and Primary immunodeficiency to Roifman syndrome, OMIM:616651; Roifman Syndrome with thrombocytopenia and Primary immunodeficiency",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:32:35.101809Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710 to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:32:18.544324Z",
"panel_name": "Limb disorders",
"panel_id": 384,
"panel_version": "4.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651 to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:30:20.109438Z",
"panel_name": "Primary immunodeficiency or monogenic inflammatory bowel disease",
"panel_id": 398,
"panel_version": "4.202",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly; Combined immunodeficiencies with associated or syndromic features to Roifman syndrome, OMIM:616651; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:30:11.114336Z",
"panel_name": "COVID-19 research",
"panel_id": 111,
"panel_version": "1.142",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly; Combined immunodeficiencies with associated or syndromic features; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature to Roifman syndrome, OMIM:616651; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:25:41.303916Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I; Microcephalic osteodysplastic primordial dwarfism, type I, 210710; MPD; microcephalic primordial dwarfism to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Lowry-Wood syndrome, OMIM:226960; Microcephalic primordial dwarfism",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:23:36.404783Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.541",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from Seckel syndrome 9, 616777 to Seckel syndrome 9, OMIM:616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:23:21.037665Z",
"panel_name": "Cerebral vascular malformations",
"panel_id": 147,
"panel_version": "3.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 616777 to Seckel syndrome 9, OMIM:616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:23:16.724624Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.161",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 to Seckel syndrome 9, OMIM:616777",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:22:51.533241Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TRAIP were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 9, 616777; Microcephaly to Seckel syndrome 9, OMIM:616777; Microcephalic primordial dwarfism",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:20:22.590643Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.169",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: XRCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:20:09.623545Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "4.169",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:45.155062Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.92",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:34.420244Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.160",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:32.571775Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:27.695576Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.540",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:19:13.789383Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:18:22.228707Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: XRCC4 were changed from MPD; microcephalic primordial dwarfism; Short stature, microcephaly, and endocrine dysfunction, 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541; Microcephalic primordial dwarfism",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:17:14.765663Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATRIP were set to ",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:16:58.103216Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRIP was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:14:51.257627Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.91",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Microcephalic primordial dwarfism; Microcephaly, micrognathia, small ear lobes, dental crowding",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:14:25.913169Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.75",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from MPD; microcephalic primordial dwarfism; severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism to Microcephalic primordial dwarfism; Severe microcephaly (-10 SD), micrognathia, dental crowding, small earlobes, delayed bone age, and symmetric dwarfism",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:13:24.045613Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.539",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:50.210700Z",
"panel_name": "Growth failure in early childhood",
"panel_id": 473,
"panel_version": "3.90",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:43.360794Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from Meier-Gorlin syndrome 5\t613805 to Meier-Gorlin syndrome 5, OMIM:613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:41.853629Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.159",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:24.639539Z",
"panel_name": "Deafness and congenital structural abnormalities",
"panel_id": 251,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from Bilateral Microtia; 613805; Meier-Gorlin syndrome 5, 613805; Neurology panel; Bilateral Microtia, 613805; Causes Meier-Gorlin EPS; syndromic features to Meier-Gorlin syndrome 5, OMIM:613805; Bilateral Microtia",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:12:03.314354Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:11:17.797617Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.74",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from MPD; microcephalic primordial dwarfism; ?Meier-Gorlin syndrome 5, 613805 to Meier-Gorlin syndrome 5, OMIM:613805; Microcephalic primordial dwarfism",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:09:01.775669Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CENPE were changed from ?Microcephaly 13, primary, autosomal recessive, 616051; MPD; microcephalic primordial dwarfism to ?Microcephaly 13, primary, autosomal recessive, OMIM:616051; Microcephalic primordial dwarfism",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:08:08.153337Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.538",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:07:37.915635Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "4.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome 4 613804 to Meier-Gorlin syndrome 4, OMIM:613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:07:33.254029Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.158",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:07:16.817464Z",
"panel_name": "Deafness and congenital structural abnormalities",
"panel_id": 251,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from Bilateral Microtia; 613804; Meier-Gorlin syndrome 4, 613804; Causes Meier-Gorlin EPS; syndromic features; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge to Meier-Gorlin syndrome 4, OMIM:613804; Short stature, small head size, the ears may be low-set or rotated backward (+/-microtia). Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:06:30.377181Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia to Meier-Gorlin syndrome 4, OMIM:613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:05:41.054592Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDT1 were changed from MPD; microcephalic primordial dwarfism; Meier-Gorlin syndrome 4, 613804 to Meier-Gorlin syndrome 4, OMIM:613804; Microcephalic primordial dwarfism",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:36.622246Z",
"panel_name": "Monogenic diabetes",
"panel_id": 472,
"panel_version": "2.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:28.228278Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:17.121565Z",
"panel_name": "Primary ovarian insufficiency",
"panel_id": 155,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome 210900 to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:03:02.628897Z",
"panel_name": "IUGR and IGF abnormalities",
"panel_id": 131,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:02:56.219879Z",
"panel_name": "Haematological malignancies for rare disease",
"panel_id": 407,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Class: BM failure syndrome (typ AR); Bloom syndrome; leukaemia; lymphoma; skin squamous cell; other tumour types; Lymphoma; ALL; MDS; AML; Leukaemia; Carcinomas to Bloom syndrome, OMIM:210900; Class: BM failure syndrome (typ AR); Bloom syndrome; leukaemia; lymphoma; skin squamous cell; other tumour types; Lymphoma; ALL; MDS; AML; Leukaemia; Carcinomas",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:01:28.675182Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, OMIM:210900 to Bloom syndrome, OMIM:210900; Microcephalic primordial dwarfism",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-24T16:00:27.076159Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic) to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:59:54.632291Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.537",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564; SECKEL SYNDROME TYPE 1 (SCKL1) to Seckel syndrome 1, OMIM:210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:59:30.227180Z",
"panel_name": "Clefting",
"panel_id": 81,
"panel_version": "4.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from SECKEL SYNDROME 1; SCKL1 to Seckel syndrome 1, OMIM:210600",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:59:18.650073Z",
"panel_name": "Clefting",
"panel_id": 81,
"panel_version": "4.110",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:58:24.764615Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATR were set to ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-24T15:58:11.300465Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "4.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from MPD; microcephalic primordial dwarfism; Seckel syndrome 1, 210600; MICROCEPHALIC PRIMORDIAL DWARFISM I to Seckel syndrome 1, OMIM:210600; Microcephalic primordial dwarfism",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-04-23T20:49:53.798453Z",
"panel_name": "Intellectual disability - microarray and sequencing",
"panel_id": 285,
"panel_version": "5.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FEM1B: Added comment: Five individuals reported now with same recurrent missense variant, NM_015322.5:c.377G>A NP_056137.1:p.(Arg126Gln). Affected individuals shared a severe neurodevelopmental disorder with behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism. Overexpression of the the FEM1BR126Q variant but not FEM1B wild-type protein, during mouse brain development, resulted in delayed neuronal migration of the target cells.; Changed rating: GREEN; Changed publications to: 31036916, 38465576; Changed phenotypes to: Syndromic disease MONDO:0002254, FEM1B-related",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2024-04-23T20:47:32.552545Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "3.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP14 was added\ngene: USP14 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to 38469793\nPhenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related\nReview for gene: USP14 was set to AMBER\nAdded comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. \nSources: Literature",
"entity_name": "USP14",
"entity_type": "gene"
}
]
}