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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=856",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=854",
"results": [
{
"created": "2022-05-05T11:59:52.920864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTR9 as ready",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:59:52.910049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctr9 has been classified as Green List (High Evidence).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:59:41.139688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13797",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:35484142; Phenotypes: oculopharyngeal muscular dystrophy, MONDO:0008116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:59:24.416622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTR9 as Green List (high evidence)",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:59:24.407150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctr9 has been classified as Green List (High Evidence).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:58:00.666339+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DROSHA as ready",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:58:00.654508+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.121",
"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": "2022-05-05T11:57:56.714961+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DROSHA as Amber List (moderate evidence)",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:57:56.705882+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.121",
"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": "2022-05-05T11:57:47.196386+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"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, Intellectual disability (MONDO:0001071); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:57:46.665404+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1589",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: DNAH14 was added\ngene: DNAH14 was added to Genetic Epilepsy. 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": "2022-05-05T11:57:45.207971+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:57:37.862666+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.165",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TULP3 as Green List (high evidence)",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:57:37.850425+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.165",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Green List (High Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:57:30.589867+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "edited their review of gene: TULP3: Added 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.; Changed rating: GREEN",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:59.195729+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.164",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:57.091084+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DROSHA as ready",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:57.079626+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1589",
"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": "2022-05-05T11:56:53.619354+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.164",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:45.624499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499085; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:28.544843+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DROSHA as Amber List (moderate evidence)",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:28.529778+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1589",
"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": "2022-05-05T11:56:15.246084+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CDH4 as ready",
"entity_name": "CDH4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:15.230891+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cdh4 has been classified as Red List (Low Evidence).",
"entity_name": "CDH4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:11.775231+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.164",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TULP3 as Green List (high evidence)",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:11.752598+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.164",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Green List (High Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:56:00.978713+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.163",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "commented on gene: TULP3: 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.",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:55.272189+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CDH4 was added\ngene: CDH4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH4 were set to 35034853\nPhenotypes for gene: CDH4 were set to coloboma MONDO#0001476, CDH4-related\nReview for gene: CDH4 was set to RED\ngene: CDH4 was marked as current diagnostic\nAdded comment: 1x family with AD coloboma \r\n\r\nAlso presented with ID and post natal microcephaly\r\n\r\nzebrafish KO model \nSources: Literature",
"entity_name": "CDH4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:24.396740+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.163",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "edited their review of gene: TULP3: Added 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.; Changed rating: GREEN",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:15.841046+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.163",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TULP3 as Green List (high evidence)",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:15.832448+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TRAPPC9 as Green List (high evidence)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:15.816162+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.163",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Green List (High Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:15.805641+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.28",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:14.178423+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: DNAH14 was added\ngene: DNAH14 was added to Intellectual disability syndromic and non-syndromic. 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": "2022-05-05T11:55:13.711054+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.162",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: TULP3 as ready",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:55:13.698632+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.162",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: tulp3 has been removed from the panel.",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:55.407972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CDH4 as ready",
"entity_name": "CDH4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:55.395823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cdh4 has been classified as Red List (Low Evidence).",
"entity_name": "CDH4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:53.354948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH14 as ready",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:53.344339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Green List (High Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:34.998829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CDH4 was added\ngene: CDH4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH4 were set to 35034853\nPhenotypes for gene: CDH4 were set to coloboma MONDO#0001476, CDH4-related\nReview for gene: CDH4 was set to RED\ngene: CDH4 was marked as current diagnostic\nAdded comment: 1x family with AD coloboma \r\n\r\nAlso presented with ID and post natal microcephaly\r\n\r\nzebrafish KO model \nSources: Literature",
"entity_name": "CDH4",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:23.099848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH14 as Green List (high evidence)",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:23.087698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Green List (High Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:18.411475+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TRAPPC9 as Green List (high evidence)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:54:18.389561+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:53:54.101355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13795",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: NRG1: Rating: RED; Mode of pathogenicity: None; Publications: 35485770; Phenotypes: Peripheral neuropathy MONDO:0005244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:52:36.456806+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13795",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x family with AD coloboma\r\n\r\nzebrafish KO model; to: 1x family with AD coloboma\r\n\r\nAlso presented with global developmental delay, autistic behaviour, delayed gross motor development\r\n\r\nzebrafish KO model",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:52:20.747665+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.4",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: HNRNPA2B1 was added\ngene: HNRNPA2B1 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA2B1 were set to PMID:35484142\nPhenotypes for gene: HNRNPA2B1 were set to oculopharyngeal muscular dystrophy, MONDO:0008116\nReview for gene: HNRNPA2B1 was set to GREEN\nAdded comment: PMID:35484142 reports 11 individuals from 10 families with heterozygous frameshift variants that result in the identical protein extension. Phenotype presents as an early-onset oculopharyngeal muscular dystrophy-like phenotype, and includes ptosis, ophthalmoplegia, symmetric proximal and distal weakness, moderate progression, dysphagia, respiratory insufficiency. \nSources: Literature",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:52:17.759555+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: TRAPPC9 as ready",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:52:17.746594+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:52:13.981847+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TRAPPC9 as Green List (high evidence)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:52:13.957316+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:51:35.979923+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: TRAPPC9 as Green List (high evidence)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:51:35.967201+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.27",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: trappc9 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:51:02.464693+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DROSHA as ready",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:51:02.453245+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"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": "2022-05-05T11:50:18.819098+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.162",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: TULP3 was added\ngene: TULP3 was added to Hypertrophic cardiomyopathy_HCM. 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\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": "2022-05-05T11:50:10.433536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DROSHA as Amber List (moderate evidence)",
"entity_name": "DROSHA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:50:10.421257+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"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": "2022-05-05T11:49:59.385536+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x family with AD coloboma \nSources: Literature; to: 1x family with AD coloboma \r\n\r\nzebrafish KO model",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:49:47.851493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13795",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x family with AD coloboma; to: 1x family with AD coloboma\r\n\r\nzebrafish KO model",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:55.731384+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PDGFRA as ready",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:55.719117+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pdgfra has been classified as Red List (Low Evidence).",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:50.355551+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PDGFRA: Changed rating: RED",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:35.820577+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PDGFRA was added\ngene: PDGFRA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFRA were set to 35034853\nPhenotypes for gene: PDGFRA were set to coloboma MONDO#0001476, PDGFRA-related\ngene: PDGFRA was marked as current diagnostic\nAdded comment: 1x family with AD coloboma \nSources: Literature",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:35.713022+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.26",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from Intellectual developmental disorder, autosomal recessive 13\tMIM#613192 to Intellectual developmental disorder, autosomal recessive 13\tMIM#613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:32.291791+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: TULP3 was added\ngene: TULP3 was added to Renal Ciliopathies and Nephronophthisis. 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\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 \r\nSources: Literature \nSources: Literature",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:48:07.182949+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.26",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism\r\nand abnormal glycosylation. \r\nWestern blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found.\r\nNo functional studies performed on the 3rd missense variant. \nSources: Literature; to: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism\r\nand abnormal glycosylation. \r\nWestern blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found.\r\nNo functional studies performed on the 3rd missense variant. \r\nSources: Literature",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:47:49.126927+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.26",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC9 were changed from to Intellectual developmental disorder, autosomal recessive 13\tMIM#613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:46:59.666314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13795",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510; coloboma MONDO#0001476, PDGFRA-related",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:46:51.760120+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13794",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PDGFRA were set to 14699510; 17087943; 25975287; 29486293; 33449152; 34107389; 17566086; 18670346",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:46:27.767662+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.25",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TRAPPC9 was added\ngene: TRAPPC9 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC9 were set to PMID: 35042660\nReview for gene: TRAPPC9 was set to AMBER\nAdded comment: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism\r\nand abnormal glycosylation. \r\nWestern blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found.\r\nNo functional studies performed on the 3rd missense variant. \nSources: Literature",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:46:22.904016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13793",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PDGFRA: Rating: RED; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, PDGFRA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:46:05.850205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13793",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CD164 as ready",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:46:05.809412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13793",
"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": "2022-05-05T11:45:49.412445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13793",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CD164 as Green List (high evidence)",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:45:49.401987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13793",
"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": "2022-05-05T11:45:35.892437+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:45:35.880722+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Green List (High Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:45:34.475504+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: BMPR1B as Green List (high evidence)",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:45:34.466469+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.19",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Green List (High Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:45:13.649491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13792",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CD164 was added\ngene: CD164 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CD164 were set to 26197441; 35254497; 26197441\nPhenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM# 616969\nReview for gene: CD164 was set to GREEN\nAdded comment: p.(Arg192Ter), a truncating variant that results in loss of 6 amino acids, was detected in two families (one Polish and one Korean) with hearing loss. Four affected (heterozygous) and two unaffected (neg) were tested, however 14 members had been diagnosed with HL in a large multi generational family (gene panel 237 genes). The second family (WES) had two affected heterozygous and no unaffected were tested. This same variant had previously been reported in a Danish family (12 affected heterozygous and 13 unaffected negative, but one younger member unaffected are heterozygous) with hearing loss (PMID: 26197441), for which functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments. The YHTL motif, deleted by the c.574C>T nonsense mutation, is a canonical sorting motif\r\nknown to be recognized by specific adaptor proteins in the cytosol, leading to subcellular trafficking of the transmembrane protein to endosomes and lysosomes. \nSources: Literature",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:45:01.596141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13791",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: CTR9 was added\ngene: CTR9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTR9 were set to PMID: 35499524\nPhenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258)\nReview for gene: CTR9 was set to GREEN\nAdded comment: PMID: 35499524 - Thirteen individuals with variables degrees of intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, autism spectrum disorder. Mild dysmorphism and cardiac anomalies were less frequent. Eleven of the variants were shown to be de novo. \nSources: Literature",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:52.755824+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: BMPR1B: Changed rating: GREEN",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:40.525851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TULP3 as ready",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:40.514190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Green List (High Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:34.745691+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.18",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR1B were set to 35034853\nPhenotypes for gene: BMPR1B were set to coloboma MONDO#0001476, BMPR1B-related\ngene: BMPR1B was marked as current diagnostic\nAdded comment: 4 unrelated families with AD coloboma \nSources: Literature",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:11.016587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TULP3 as Green List (high evidence)",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:11.007355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Green List (High Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:44:09.756849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13791",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600 to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600; coloboma MONDO#0001476, BMPR1B-related",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:43:52.040224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13790",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: BMPR1B were set to 15805157; 24129431; 26105076; 25758993; 14523231; 14523231",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:43:23.721152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13789",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, BMPR1B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:42:58.067203+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIBP1 as ready",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:42:58.055136+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": "2022-05-05T11:42:19.293152+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.127",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: CD164 were set to 26197441; 35254497; 26197441",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:41:58.033028+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.120",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: DROSHA was added\ngene: DROSHA was added to Microcephaly. 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": "2022-05-05T11:41:57.850169+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.126",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: CD164 were set to 26197441; 35254497; 26197441",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:41:34.516634+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.126",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: CD164 were set to 26197441",
"entity_name": "CD164",
"entity_type": "gene"
},
{
"created": "2022-05-05T11:41:12.090781+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1588",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: DROSHA was added\ngene: DROSHA was added to Genetic Epilepsy. 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": "2022-05-05T11:41:02.349807+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"
}
]
}