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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=857",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=855",
"results": [
{
"created": "2022-05-05T11:41:02.338136+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.125",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cd164 has been classified as Green List (High Evidence).",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:40:48.201957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13789",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: DNAH14 was added\ngene: DNAH14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH14 were set to PMID: 35438214\nPhenotypes for gene: DNAH14 were set to Neurodevelopmental disorder, DNAH14-related (MONDO#0700092)\nReview for gene: DNAH14 was set to GREEN\ngene: DNAH14 was marked as current diagnostic\nAdded comment: PMID: 35438214:\r\n- Three previously unreported patients with compound heterozygous DNAH14 variants, including one nonsense, one frameshift, and four missense variants. A spectrum of neurological and developmental phenotypes was observed, including seizures, global developmental delay, microcephaly, and hypotonia. \nSources: Literature",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:40:36.276800+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.125",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CD164 as Green List (high evidence)",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:40:36.252335+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.125",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cd164 has been classified as Green List (High Evidence).",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:40:16.447116+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: DROSHA was added\ngene: DROSHA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DROSHA were set to 35405010\nPhenotypes for gene: DROSHA were set to Neurodevelopmental disorder (MONDO#0700092), DROSHA-related\nReview for gene: DROSHA was set to AMBER\nAdded comment: 2 individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. Both variants are missense, absent from gnomad. Both individuals noted to have Rett-like features.\r\n\r\nFunctional studies in patient fibroblasts showed one of the missense altered the expression of mature miRNA. Fruit fly models with homozygous LOF variants die during larval stages. introduction of the missense seen in the patients was able to partially rescue this phenotype suggesting LOF is not the mechanism. \nSources: Literature",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:40:10.044917+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: ANK3 as ready",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:40:10.035102+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:39:46.147831+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: ANK3 as Amber List (moderate evidence)",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:39:46.136729+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.17",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ank3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:39:17.118573+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.16",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ANK3 was added\ngene: ANK3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: ANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANK3 were set to 35034853\nPhenotypes for gene: ANK3 were set to coloboma MONDO#0001476, ANK3-related\nReview for gene: ANK3 was set to AMBER\ngene: ANK3 was marked as current diagnostic\nAdded comment: 2 unrelated families with missense - 1x de novo and 1x unknown inheritance \r\n\r\nzebrafish KO model \nSources: Literature",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:38:49.010284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13789",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant; coloboma MONDO#0001476, ANK3-related to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant; coloboma MONDO#0001476, ANK3-related",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:38:13.742797+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.93",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: MBD4 were set to 35460607",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:38:05.385193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:37:57.879384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13788",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant; coloboma MONDO#0001476, ANK3-related",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:37:35.936731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13789",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNH5 as Green List (high evidence)",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:37:35.925381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13789",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:37:27.048519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13788",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: ANK3 were set to 23390136; 28687526; 34218362",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:37:20.662535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13787",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: TULP3 was added\ngene: TULP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TULP3 were set to PMID: 35397207\nPhenotypes for gene: TULP3 were set to progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045\nReview for gene: TULP3 was set to GREEN\nAdded comment: 15 individuals from eight unrelated families with bi-allelic variants in TULP3 were detected. The affected individuals reported are mostly adults, in the 3rd through 7th decades of life, and presented with progressive degenerative liver fibrosis with variable fibrocystic kidney disease and hypertrophic cardiomyopathy. \r\n\r\nThe human phenotype was ecapitulated in adult zebrafish and confirmed disruption of critical ciliary cargo composition in several primary cell lines derived from affected individuals \nSources: Literature",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:37:05.373283+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.124",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CD164: Rating: GREEN; Mode of pathogenicity: None; Publications: 35254497, 26197441; Phenotypes: autosomal dominant nonsyndromic hearing loss MONDO:0019587 CD164-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:36:53.687094+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.93",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: MBD4 were set to 35460607",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:36:34.366182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13787",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ANK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, ANK3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ANK3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:36:14.249979+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.92",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf; 35460607",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:36:14.094392+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNH5 as Green List (high evidence)",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:36:14.049174+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:36:12.097904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM13 were set to 30710461; 34730112",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:32.966308+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNH5 as Green List (high evidence)",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:32.956530+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:05.132975+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNH5 as Green List (high evidence)",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:05.115650+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4740",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:04.931186+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.92",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:02.566415+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1588",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNH5 as Green List (high evidence)",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:34:02.539284+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1588",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:33:20.299208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DROSHA as ready",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:33:20.288460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drosha has been classified as Amber List (Moderate Evidence).",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:33:13.730008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DROSHA as Amber List (moderate evidence)",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:33:13.715520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drosha has been classified as Amber List (Moderate Evidence).",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:33:04.311974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13786",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNH5 as Green List (high evidence)",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:33:04.294078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13786",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:31:37.911465+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4739",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KCNH5 as ready",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:31:37.892405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4739",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:31:27.873379+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1587",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KCNH5 as ready",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:31:27.862705+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1587",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:31:14.911541+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.91",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: MBD4 were changed from AML and colorectal polyps; MBD4-associated neoplasia syndrome to Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:30:33.379187+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.90",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: MBD4: Added comment: PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma.\r\n\r\nPMID:35381620: A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.; Changed rating: GREEN",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:30:01.276291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DTYMK were changed from Intellectual disability; microcephaly to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:29:37.870675+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.471",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: STX1A as ready",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:29:37.860649+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.471",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:29:34.350209+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.471",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: STX1A as Amber List (moderate evidence)",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:29:34.337578+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.471",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:28:54.445371+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.470",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: STX1A was added\ngene: STX1A was added to Regression. Sources: Literature\nMode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: STX1A were set to neurodevelopmental disorder MONDO#0700092, STX1A-related\nReview for gene: STX1A was set to AMBER\ngene: STX1A was marked as current diagnostic\nAdded comment: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \nSources: Literature",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:28:51.104377+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DTYMK were set to 31271740",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:28:14.538840+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DTYMK as Green List (high evidence)",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:28:14.527405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtymk has been classified as Green List (High Evidence).",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:27:45.188200+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: STX1A as ready",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:27:45.171226+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Green List (High Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:27:23.736902+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: STX1A as Green List (high evidence)",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:27:23.727041+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1587",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Green List (High Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:26:54.841859+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.90",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: MBD4 as Green List (high evidence)",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:26:54.829092+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.90",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: mbd4 has been classified as Green List (High Evidence).",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:26:21.467696+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1586",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: STX1A was added\ngene: STX1A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: STX1A were set to neurodevelopmental disorder MONDO#0700092, STX1A-related\nReview for gene: STX1A was set to GREEN\ngene: STX1A was marked as current diagnostic\nAdded comment: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \nSources: Literature",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:26:03.994568+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIBP1 as ready",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:26:03.983069+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:25:38.962563+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIBP1 as Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:25:38.950142+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:24:47.958176+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related\nReview for gene: PPFIBP1 was set to GREEN\nAdded comment: 16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model. \nSources: Expert Review",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:24:16.987253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIBP1 as ready",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:24:16.973627+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:24:10.901389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4736",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KCNH5 was added\ngene: KCNH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1\nPhenotypes for gene: KCNH5 were set to Neurodevelopmental disorder MONDO#0700092, KCNH5-related\nMode of pathogenicity for gene: KCNH5 was set to Other\nReview for gene: KCNH5 was set to GREEN\nAdded comment: Happ (2022), preprint: Screen of 893 patients with DEE found 17 patients with missense variants (16/17 de novo, 1/17 inherited). GOF mechanism suggested.\r\nPatient phenotypes included focal/generalized seizures, Cognitive outcome for the ten individuals >5 years ranged from normal (3/10) to mild (3/10), moderate (2/10), severe (1/10) and profound (1/10) intellectual disability (ID)\r\n\r\np.Arg327His (7 probands), p.Arg333His (4 probands) were recurring \nSources: Literature",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:24:10.876883+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1585",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KCNH5 was added\ngene: KCNH5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1\nPhenotypes for gene: KCNH5 were set to Neurodevelopmental disorder MONDO#0700092, KCNH5-related\nMode of pathogenicity for gene: KCNH5 was set to Other\nReview for gene: KCNH5 was set to GREEN\nAdded comment: Happ (2022), preprint: Screen of 893 patients with DEE found 17 patients with missense variants (16/17 de novo, 1/17 inherited). GOF mechanism suggested.\r\nPatient phenotypes included focal/generalized seizures, Cognitive outcome for the ten individuals >5 years ranged from normal (3/10) to mild (3/10), moderate (2/10), severe (1/10) and profound (1/10) intellectual disability (ID)\r\n\r\np.Arg327His (7 probands), p.Arg333His (4 probands) were recurring \nSources: Literature",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:23:44.146269+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIBP1 as Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:23:44.135068+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:23:05.162372+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIBP1 as Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:23:05.150118+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:23:04.588615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13785",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder MONDO#0700092, KCNH5-related",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:22:32.418296+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: STX1A as Green List (high evidence)",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:22:32.398818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Green List (High Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:22:28.572636+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related\nReview for gene: PPFIBP1 was set to GREEN\nAdded comment: 16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model. \nSources: Expert Review",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:22:03.745387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIBP1 as Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:22:03.729370+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:21:35.200628+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4734",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: STX1A as Green List (high evidence)",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:21:35.189973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4734",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Green List (High Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:21:33.396146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4733",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: STX1A as ready",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:21:33.382695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4733",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Red List (Low Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:21:17.285975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13784",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34923728; Phenotypes: Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:20:39.551998+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4733",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: STX1A was added\ngene: STX1A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: STX1A were set to neurodevelopmental disorder MONDO#0700092, STX1A-related\nReview for gene: STX1A was set to GREEN\ngene: STX1A was marked as current diagnostic\nAdded comment: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \nSources: Literature",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:20:35.368031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13784",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35390279; Phenotypes: Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:20:21.083239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13784",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: DROSHA was added\ngene: DROSHA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DROSHA were set to 35405010\nPhenotypes for gene: DROSHA were set to Neurodevelopmental disorder (MONDO#0700092), DROSHA-related\nReview for gene: DROSHA was set to AMBER\nAdded comment: 2 individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. Both variants are missense, absent from gnomad. Both individuals noted to have Rett-like features.\r\n\r\nFunctional studies in patient fibroblasts showed one of the missense altered the expression of mature miRNA. Fruit fly models with homozygous LOF variants die during larval stages. introduction of the missense seen in the patients was able to partially rescue this phenotype suggesting LOF is not the mechanism. \nSources: Literature",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:20:06.007435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13784",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KCNH5 was added\ngene: KCNH5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1\nPhenotypes for gene: KCNH5 were set to Neurodevelopmental disorders\nMode of pathogenicity for gene: KCNH5 was set to Other\nReview for gene: KCNH5 was set to GREEN\nAdded comment: Happ (2022), preprint: Screen of 893 patients with DEE found 17 patients with missense variants (16/17 de novo, 1/17 inherited). GOF mechanism suggested.\r\nPatient phenotypes included focal/generalized seizures, Cognitive outcome for the ten individuals >5 years ranged from normal (3/10) to mild (3/10), moderate (2/10), severe (1/10) and profound (1/10) intellectual disability (ID)\r\n\r\np.Arg327His (7 probands), p.Arg333His (4 probands) were recurring \nSources: Literature",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:19:44.395035+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIBP1 was added\ngene: PPFIBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1\nPhenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related\nReview for gene: PPFIBP1 was set to GREEN\nAdded comment: 16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model. \nSources: Expert Review",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:19:19.928307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIBP1 as ready",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:19:19.914553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:19:12.724744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13783",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: STX1A as ready",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:19:12.703999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13783",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stx1a has been classified as Green List (High Evidence).",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:58.032987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13783",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: STX1A were changed from to neurodevelopmental disorder MONDO#0700092, STX1A-related",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:53.934723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:28.671681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13782",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Preprint:\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \nSources: Literature; to: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1\r\n8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)\r\n\r\n7 unrelated since the 2 siblings share similar features:\r\n7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria \r\nSources: Literature",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:25.829273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIBP1 as Green List (high evidence)",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:25.818764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfibp1 has been classified as Green List (High Evidence).",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:14.866600+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4731",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: DTYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 34918187; Phenotypes: Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:18:10.396985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13781",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: STX1A: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, STX1A-related",
"entity_name": "STX1A",
"entity_type": "gene"
}
]
}