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{
"count": 156298,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
"previous": null,
"results": [
{
"created": "2020-09-23T14:06:05.167969Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.335",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AGPS were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 (RCDP3) to Rhizomelic chondrodysplasia punctata, type 3, 600121",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T14:05:16.804885Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.334",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: AGPS were set to 7807941; 11152660",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T14:04:16.107457Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.333",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AGPS as Green List (high evidence)",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T14:04:16.098548Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.333",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Though some relevant phenotypic features have been reported, the relationship with ID is not clear from literature. Patients are more likely to be recognised in context of the skeletal phenotype. \r\n\r\nTherefore, suggesting a rating downgrade from Green to Amber at the next major review.",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T14:04:16.077818Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.333",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: agps has been classified as Green List (High Evidence).",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T13:56:49.605476Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: AGPS.",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T13:56:33.542520Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: None; Publications: 7807941, 11152660, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-09-23T12:33:52.867901Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; to: PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T12:32:08.409198Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: C1orf194: Added comment: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; Changed publications: 32592472; Changed phenotypes: Charcot-Marie-Tooth",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:59:15.518678Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: C1orf194 were set to 31199454",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:58:50.928454Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: C1orf194 as Amber List (moderate evidence)",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:58:50.923361Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This is has been added with an Amber rating, in accordance with the expert review by Zornitza Stark.",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:58:50.883492Z",
"panel_name": "Hereditary neuropathy NOT PMP22 copy number",
"panel_id": 846,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: c1orf194 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C1orf194",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:42:45.477742Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32469049; Phenotypes: Rett syndrome, 312750; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T11:41:56.660626Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.154",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32469049; Phenotypes: Rett syndrome, 312750; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-09-23T10:57:49.664986Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32667670; Phenotypes: Mental retardation, X-linked, syndromic 14, 300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2020-09-23T01:45:40.557505Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPR1 was added\ngene: XPR1 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: XPR1 were set to 25938945\nPhenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, MIM# 616413\nReview for gene: XPR1 was set to GREEN\ngene: XPR1 was marked as current diagnostic\nAdded comment: Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterised by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions. At least 5 unrelated families reported. \nSources: Expert list",
"entity_name": "XPR1",
"entity_type": "gene"
},
{
"created": "2020-09-23T00:18:16.547952Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13C was added\ngene: VPS13C was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13C were set to 26942284; 30452786; 28862745\nPhenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840\nReview for gene: VPS13C was set to GREEN\ngene: VPS13C was marked as current diagnostic\nAdded comment: >3 individuals with biallelic variants. \nSources: Expert list",
"entity_name": "VPS13C",
"entity_type": "gene"
},
{
"created": "2020-09-23T00:14:16.505525Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TWNK were set to 24076137; 22949510; 22580846; 19353676\nPhenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286\nReview for gene: TWNK was set to GREEN\ngene: TWNK was marked as current diagnostic\nAdded comment: Greater than three cases reported with parkinsonism as a feature of the condition. \nSources: Expert list",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-09-23T00:00:27.281541Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC20A2 was added\ngene: SLC20A2 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC20A2 were set to 22327515; 23334463\nPhenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, MIM# 213600\nReview for gene: SLC20A2 was set to GREEN\ngene: SLC20A2 was marked as current diagnostic\nAdded comment: Over 50 families reported. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. \nSources: Expert list",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2020-09-22T23:39:56.467456Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDGFRB was added\ngene: PDGFRB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFRB were set to 23255827; 30979360\nPhenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4, MIM# 615007\nReview for gene: PDGFRB was set to GREEN\ngene: PDGFRB was marked as current diagnostic\nAdded comment: Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. Presentation is with parkinsonism and impaired cognitive function. \nSources: Expert list",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2020-09-22T23:32:59.168217Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDGFB was added\ngene: PDGFB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFB were set to 23913003\nPhenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5, MIM# 615483\nReview for gene: PDGFB was set to GREEN\ngene: PDGFB was marked as current diagnostic\nAdded comment: Progressive disorder characterised by neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. More than 10 families reported. \nSources: Expert list",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2020-09-22T23:26:53.883122Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE8B was added\ngene: PDE8B was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE8B were set to 20085714; 26769607; 26475694\nPhenotypes for gene: PDE8B were set to Striatal degeneration, autosomal dominant, MIM#609161\nReview for gene: PDE8B was set to GREEN\nAdded comment: Movement disorder due to basal ganglia abnormalities, at least three families reported with heterozygous variants in this gene. \nSources: Expert list",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2020-09-22T17:01:19.257152Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.199",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis, 617388",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:58:06.915329Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.198",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive; Type 1 interferonopathies; Classical AGS, SLE, FCL; Autoinflammatory Disorders to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Type 1 interferonopathies; Classical AGS, SLE, FCL; Autoinflammatory Disorders",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:57:09.182259Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.197",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: STK4 were changed from Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations; AR hyperimmunoglobulin E syndrome; Combined immunodeficiency; Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease; Immunodeficiencies affecting cellular and humoral immunity to Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868; AR hyperimmunoglobulin E syndrome; Combined immunodeficiency; Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease; Immunodeficiencies affecting cellular and humoral immunity",
"entity_name": "STK4",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:54:51.918298Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.196",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive; Hyper-IgE recurrent infection syndrome; impaired T cell function, Atopy, cutaneous viral infections; Combined immunodeficiency; Hyper IgE syndrome (HIES); Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis; Immunodeficiencies affecting cellular and humoral immunity to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700; Hyper-IgE recurrent infection syndrome; impaired T cell function, Atopy, cutaneous viral infections; Combined immunodeficiency; Hyper IgE syndrome (HIES); Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis; Immunodeficiencies affecting cellular and humoral immunity",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:52:04.365397Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.195",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-09-22T16:50:37.947855Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.194",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function; XMEN syndrome; Immunodeficiency, X-linked, with magnesium defect; Epstein-Barr virus infection and neoplasia (XMEN); Combined immunodeficiency; EBV infection, lymphoma, viral infections, respiratory and GI infections; Diseases of Immune Dysregulation; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:53:35.818488Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: STAT1 as Red List (low evidence)",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:53:35.790434Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.332",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: stat1 has been classified as Red List (Low Evidence).",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:52:56.381845Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.331",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark; to: Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark and Konstantinos Varvagiannis",
"entity_name": "STAT1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:42:45.885869Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.331",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark; to: Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark and Konstantinos Varvagiannis",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:42:00.532882Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.331",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: ABCC6 as Red List (low evidence)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:42:00.523626Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.331",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Red List (Low Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:41:19.760799Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.330",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark; to: Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark and Konstantinos Varvagiannis",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:17:23.760310Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.14",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-22T15:16:22.460594Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SH2B3 as Amber List (moderate evidence)",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:16:22.452729Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: An amber rating has been given to SH2B3, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100.",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:16:22.407659Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.13",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:14:30.577024Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: SH2B3.",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:13:22.757900Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: JAK2.",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:11:17.288622Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: JAK2 as Amber List (moderate evidence)",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:11:17.283458Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: An amber rating has been given to JAK2, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100.",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-09-22T15:11:17.252351Z",
"panel_name": "Hereditary Erythrocytosis",
"panel_id": 157,
"panel_version": "1.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: jak2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-09-22T14:17:46.186143Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.193",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-09-22T13:30:12.865178Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Variants in TCF12 typically cause craniosynostosis, while evidence for an association with Kallmann Syndrome is currently based on a single study, and therefore warrants further investigation. Furthermore, the presence of incomplete penetrance must be considered. \r\n\r\nAdditional cases would help validate the pathogenicity of TCF12 variants in aberrant GnRH axis development. \r\n\r\nTherefore, rating Amber in anticipation of additional publications/clinical evidence (added to watchlist).; to: Comment on list classification: Variants in TCF12 typically cause craniosynostosis, while evidence for an association with Kallmann Syndrome is currently based on a single study, and therefore warrants further investigation. Furthermore, the presence of incomplete penetrance must be considered. Additional cases would help validate the pathogenicity of TCF12 variants in aberrant GnRH axis development. \r\n\r\nTherefore, rating Amber in anticipation of additional publications/clinical evidence (added to watchlist).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T13:29:55.402450Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: TCF12.",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T13:29:48.379223Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TCF12 as Amber List (moderate evidence)",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T13:29:48.375942Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Variants in TCF12 typically cause craniosynostosis, while evidence for an association with Kallmann Syndrome is currently based on a single study, and therefore warrants further investigation. Furthermore, the presence of incomplete penetrance must be considered. \r\n\r\nAdditional cases would help validate the pathogenicity of TCF12 variants in aberrant GnRH axis development. \r\n\r\nTherefore, rating Amber in anticipation of additional publications/clinical evidence (added to watchlist).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T13:29:48.357527Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tcf12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T13:08:00.737990Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: TCF12 was added\ngene: TCF12 was added to Disorders of sex development. Sources: Literature\nMode of inheritance for gene: TCF12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TCF12 were set to 32620954\nPhenotypes for gene: TCF12 were set to Kallmann syndrome\nReview for gene: TCF12 was set to AMBER\nAdded comment: Note monoallelic variants in this gene are a well-established cause of craniosynostosis.\r\n--------------------------------------------------------------------------------------------------------------------\r\n\r\n- PMID: 32620954 (2020) - 13 unrelated kindreds (11 de novo, 1 AD and 1 AR) comprising 14 affected individuals with an anosmic form of isolated GnRH deficiency (IGD) (Kallman syndrome) due to different LoF variants in TCF12. \r\n\r\nClinical manifestation included anosmia and pubertal failure (with reproductive phenotypes such as micropenis, bilateral cryptorchidism, hypospadias). Two unrelated individuals within the cohort additionally exhibited craniosynostosis, and a further two pedigrees had a family history of craniosynostosis (that did not affect the index cases). Multiplex cases typically presented incomplete penetrance. \r\n\r\nLoss of tcf12 in a mutant zebrafish model perturbed GnRH neuronal patterning, with concomitant expression attenuation of tcf3a/b and stub1 (latter mutated in other syndromic forms of IGD). Furthermore, restored STUB1 expression rescued loss of tcf12 in vivo. \nSources: Literature",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2020-09-22T10:42:54.374847Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: DHX37.",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-22T10:42:26.942505Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DHX37 were set to 31337883; 31745530",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-22T10:42:16.084144Z",
"panel_name": "Disorders of sex development",
"panel_id": 9,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DHX37 were changed from 46,XY gonadal dysgenesis; testicular regression syndrome (TRS) to 46, XY sex reversal 11, 273250",
"entity_name": "DHX37",
"entity_type": "gene"
},
{
"created": "2020-09-22T09:38:02.524752Z",
"panel_name": "Primary immunodeficiency",
"panel_id": 398,
"panel_version": "2.193",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32504080; Phenotypes: Lysinuric protein intolerance, 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-09-22T08:39:54.599712Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: It is suggested that the mode of inheritance for TNFRSF11A should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review.",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2020-09-22T08:39:54.577387Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2020-09-22T08:36:52.091712Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: TNFRSF11A.",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2020-09-22T06:12:59.674744Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC5 was added\ngene: DNAJC5 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNAJC5 were set to 22978711; 21820099; 22235333\nPhenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350\nReview for gene: DNAJC5 was set to GREEN\nAdded comment: Parkinsonism has been described in some individuals with this progressive adult-onset neurodegenerative disorder. The (346_348delCTC) variant is recurrent, without evidence of founder effect. \nSources: Expert list",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2020-09-22T06:05:16.460271Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC12 was added\ngene: DNAJC12 was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384\nReview for gene: DNAJC12 was set to GREEN\nAdded comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. \nSources: Expert list",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:59:38.270739Z",
"panel_name": "Parkinson Disease and Complex Parkinsonism",
"panel_id": 39,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CP were set to 28012953\nPhenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290\nReview for gene: CP was set to GREEN\nAdded comment: Parkinsonism is a prominent feature of the condition. \nSources: Expert list",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:42:06.281444Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:28:38.923505Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:27:42.350078Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:26:23.144633Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:20:21.240691Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A15 were set to 16376511; 22465082; 28592010\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970\nReview for gene: SLC25A15 was set to GREEN\nAdded comment: At least four unrelated cases reported with an adult onset spastic paraparesis as a feature of the condition. \nSources: Expert list",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:18:34.972873Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:18:03.028442Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:17:15.799585Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:16:21.731899Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "REEP2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:15:16.383627Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:14:09.605461Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:09:27.116660Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:08:11.064793Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:02:17.654509Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2020-09-22T05:01:28.923024Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2020-09-22T04:02:03.622586Z",
"panel_name": "Hereditary spastic paraplegia - adult onset",
"panel_id": 567,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:50.282753Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: RAD50.",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:33.837016Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:28.306359Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to 19409520; 32212377",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:13.207303Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RAD50 as Amber List (moderate evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:13.202207Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Relevant phenotype (two unrelated cases with severe congenital microcephaly) but additional cases required before inclusion of RAD50 on a diagnostic panel. \r\n\r\nRating Amber in anticipation of additional publications/clinical evidence (added to watchlist).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:42:13.162977Z",
"panel_name": "Severe microcephaly",
"panel_id": 162,
"panel_version": "2.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:34:57.127217Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.330",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Borderline ID in second patient (at age 15 estimated IQ: 85). Therefore, keeping rating Red awaiting further cases to clarify the relevance of ID to the overall phenotype. ; to: Comment on list classification: Note uncertainty regarding ID in the first patient - PMID:1887849 states 'lack of mental retardation', while a later report PMID:19409520 describes 'mild to moderate retardation of psychomotor development'. ID was borderline in the second patient (at age 15 estimated IQ: 85). \r\n\r\nTherefore, keeping rating Red awaiting further cases to clarify the relevance of ID to the phenotype associated with RAD50 variants. ",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:22:20.165650Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.330",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Borderline ID in second patient (at age 15 estimated IQ: 85). Therefore, keeping rating Red awaiting further cases to ascertain the contribution of RAD50 variants to an ID phenotype.; to: Comment on list classification: Borderline ID in second patient (at age 15 estimated IQ: 85). Therefore, keeping rating Red awaiting further cases to clarify the relevance of ID to the overall phenotype. ",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:03:03.946458Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.330",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder,613078; NBSLD to Nijmegen breakage syndrome-like disorder, 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:02:28.578355Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.329",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RAD50 were set to 1887849; 19409520",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:01:27.436921Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.328",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RAD50 as Red List (low evidence)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:01:27.433623Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.328",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Borderline ID in second patient (at age 15 estimated IQ: 85). Therefore, keeping rating Red awaiting further cases to ascertain the contribution of RAD50 variants to an ID phenotype.",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T15:01:27.408802Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.328",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rad50 has been classified as Red List (Low Evidence).",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:48:14.205300Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.154",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag watchlist tag was added to gene: DHX16.",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:47:54.253682Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.154",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: DHX16 as Amber List (moderate evidence)",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:47:54.243409Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.154",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: dhx16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:47:38.911100Z",
"panel_name": "Genetic epilepsy syndromes",
"panel_id": 402,
"panel_version": "2.153",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: DHX16 was added\ngene: DHX16 was added to Genetic epilepsy syndromes. Sources: Literature\nMode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DHX16 were set to 31256877\nPhenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733\nReview for gene: DHX16 was set to AMBER\nAdded comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Intellectual Disability, Central Nervous System anomalies and Seizures. At least 4 variants reported as de novo heterozygous variants in 4 unrelated probands as a result of trio exome sequencing and seizures were reported in 2 of these cases. No functional studies were reported. \nSources: Literature",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:38:46.602261Z",
"panel_name": "Osteopetrosis",
"panel_id": 943,
"panel_version": "1.2",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-21T14:31:54.783193Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.327",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WASHC4 were changed from Mental retardation, autosomal recessive 43, MIM #615817 to Mental retardation, autosomal recessive 43, 615817",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:30:51.361108Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.326",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: WASHC4 as Amber List (moderate evidence)",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:30:51.357585Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.326",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber in view of mild/borderline ID in 2/3 families. Additional cases with a more significant manifestation of ID required before inclusion of WASHC4 on a diagnostic panel.",
"entity_name": "WASHC4",
"entity_type": "gene"
},
{
"created": "2020-09-21T14:30:51.336555Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.326",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: washc4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WASHC4",
"entity_type": "gene"
}
]
}