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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=427",
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"results": [
{
"created": "2024-07-04T09:32:09.721906+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC5 were changed from Developmental disorders to Neurodevelopmental disorder (MONDO#0700092), PSMC5-related",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:31:20.290476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC5 as Green List (high evidence)",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:31:20.273956+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc5 has been classified as Green List (High Evidence).",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:24:04.427462+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:24:04.411103+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:23:50.481391+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:23:50.471913+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:22:23.800151+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1\nPhenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related\nReview for gene: PSMF1 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. \nSources: Literature",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:21:45.885742+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:21:45.854107+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:51.021434+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:51.009933+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:39.176021+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1\nPhenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related\nReview for gene: PSMF1 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. \nSources: Literature",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:24.707026+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:24.693085+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:02.176081+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:20:02.155277+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:19:14.727722+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1\nPhenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related\nReview for gene: PSMF1 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. \nSources: Expert list",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:18:20.881000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:18:20.850388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:18:05.395128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:18:05.379764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:17:22.178401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1\nPhenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related\nReview for gene: PSMF1 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. \nSources: Literature",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:17:21.768996+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:17:21.745080+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:17:13.464310+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:17:13.450663+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:16:14.956488+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1\nPhenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related\nReview for gene: PSMF1 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. \nSources: Literature",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:15:54.731322+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:15:54.718827+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:15:33.601036+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMF1 as Green List (high evidence)",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:15:33.590172+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Green List (High Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:15:28.376586+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMF1 as ready",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:15:28.356386+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmf1 has been classified as Red List (Low Evidence).",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T09:14:34.079998+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMF1 was added\ngene: PSMF1 was added to Regression. Sources: Literature\nMode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1\nPhenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related\nReview for gene: PSMF1 was set to GREEN\nAdded comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex.\r\n\r\nGenotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. \nSources: Literature",
"entity_name": "PSMF1",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:54:12.887869+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency MONDO:0015974 to Immunodeficiency 122, MIM# 620869",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:52:06.727285+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLD3 were set to 37030525; 36395985; 27524497",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:51:33.702149+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLD3 as Green List (high evidence)",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:51:33.692473+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Green List (High Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:51:03.948197+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38099988; Phenotypes: Immunodeficiency 122, MIM# 620869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:50:02.666394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency MONDO:0015974 to Immunodeficiency 122, MIM# 620869",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:49:42.478340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLD3 were set to 37030525; 36395985; 27524497",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:49:18.460370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLD3 as Green List (high evidence)",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:49:18.444287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pold3 has been classified as Green List (High Evidence).",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T08:48:25.189943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38099988; Phenotypes: Immunodeficiency 122, MIM# 620869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLD3",
"entity_type": "gene"
},
{
"created": "2024-07-04T00:38:00.914912+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.418",
"user_name": "Gina Ravenscroft",
"item_type": "entity",
"text": "commented on gene: ALDH1A2",
"entity_name": "ALDH1A2",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:21:27.458705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Green List (high evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:21:27.441807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1861",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:21:08.370319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1860",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38884572, 37418012; Phenotypes: Hereditary ataxia MONDO:0100309, TUBA4A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:17:48.599823+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TUBA4A were set to 25374358; 25893256; 28069311; 38463699; 38884572; 26675813",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:16:41.911238+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TUBA4A were set to 28069311; 25374358; 26675813",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:15:48.428373+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Green List (high evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:15:48.412256+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:15:07.927419+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TUBA4A: Added comment: At least 13 probands reported with ALS or phenotype including motor neurone involvement. Limited segregation evidence and mechanism of disease not established - toxic gain of function, dominant negative, or loss of function suggested\r\nPMID: 25374358 - 7 rare TUBA4A variants OR = 36 [95% CI: 10–210], p = 4.3 × 10−7, Pcorrected = 4.2 × 10−3 in an FALS cohort. Included 1 nonsense (W407X in last exon) and 6 missense variants. FALS cases n=635, controls n=5,510. T145P variant segregated with disease within the family, while K430N was not detected in an affected first cousin of the sequenced proband (?phenocopy). Functional analyses revealed that TUBA4A mutants destabilize the microtubule network, diminishing its repolymerization capability - suggesting a dominant negative mechanism of disease.\r\nPMID: 25893256 - 4 Italian sporadic ALS cases with rare TUBA4A variants (3 missense & 1 splice variant). Minigene assay demonstrates c.226+4A>G causes exon 2 skipping which is expected to a frameshift and NMD. Loss of function is not an established mechanism of ALS in relation to TUBA4A.\r\nPMID: 28069311 - rare missense (Thr381Met) detected in 2 siblings with ALS, but both had the C9orf72 expansion\r\nPMID: 38463699 - reduced TUBA4A protein expression in familial and sporadic ALS brain tissue. Knockout zebrafish has a motor axonopathy and motor behavior defects reflecting a motor neuron disease phenotype\r\nPMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Amyotrophy or upper limb muscular weakness in 2/12, 16.6%.; Changed rating: GREEN; Changed publications: 25374358, 25893256, 28069311, 38463699, 38884572; Changed phenotypes: amyotrophic lateral sclerosis type 22 MONDO:0014531; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:06:52.889231+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TUBA4A were set to 28069311; 25374358; 26675813",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:05:54.615583+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TUBA4A: Changed phenotypes: Inherited neurodegenerative disorder MONDO:0024237, TUBA4A-related",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:04:56.262347+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Green List (high evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:04:56.253938+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T18:04:18.415786+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25374358, 28069311, 35327632, 34169147, 38884572, 33760283; Phenotypes: amyotrophic lateral sclerosis type 22 MONDO:0014531; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T15:18:15.292909+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.39",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).\r\n\r\nKennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.\r\n\r\nSt John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found \"Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired.\" In detail, \"Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. \"\r\n\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).\r\n\r\nKennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature.\r\n\r\nSt John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found \"Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired.\" In detail, \"Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. \"\r\n\r\n\r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:12:47.623978+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TUBA4A as ready",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:12:47.594912+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:12:37.559854+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Green List (high evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:12:37.551058+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:12:21.254494+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBA4A was added\ngene: TUBA4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA4A were set to 38884572; 37418012\nPhenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related\nMode of pathogenicity for gene: TUBA4A was set to Other\nReview for gene: TUBA4A was set to GREEN\nAdded comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.\r\n\r\nPMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo. \nSources: Literature",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:06:10.724504+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TUBA4A as ready",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:06:10.713914+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:06:06.184656+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUBA4A as Green List (high evidence)",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:06:06.167388+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tuba4a has been classified as Green List (High Evidence).",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T14:05:37.671426+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBA4A was added\ngene: TUBA4A was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA4A were set to 38884572; 37418012\nPhenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related\nMode of pathogenicity for gene: TUBA4A was set to Other\nReview for gene: TUBA4A was set to GREEN\nAdded comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.\r\n\r\nPMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo. \nSources: Literature",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:21:49.173685+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6050",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38776958, 38293138; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PSMC5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:21:45.183503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1860",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38776958, 38293138; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PSMC5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:05:20.963192+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.253",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: VPS50 were set to PMID: 34037727",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:05:07.845488+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:03:27.854083+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: VPS50 were set to 34037727; 38876772",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:03:01.948141+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: VPS50 were set to 34037727; 38876772",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:02:32.603473+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6050",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: VPS50 as Green List (high evidence)",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:02:32.587315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6050",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: vps50 has been classified as Green List (High Evidence).",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:02:29.307372+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: VPS50 as Green List (high evidence)",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:02:29.293940+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: vps50 has been classified as Green List (High Evidence).",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:02:07.537722+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6050",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: VPS50 were set to 34037727",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:02:04.055755+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: VPS50 were set to 34037727",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:01:28.053875+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: VPS50 as Green List (high evidence)",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:01:28.042500+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: vps50 has been classified as Green List (High Evidence).",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:01:23.674245+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6049",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:00:33.276524+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: VPS50: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nsevere ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T13:00:15.923394+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.29",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:59:41.042609+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nmicrocephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nsevere ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:59:37.152270+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.265",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nmicrocephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nsevere ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:59:26.407803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1860",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nmicrocephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nsevere ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive",
"entity_name": "VPS50",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:55:23.308064+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: SERPINA11 as ready",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:55:23.298006+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: serpina11 has been classified as Red List (Low Evidence).",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:55:12.943298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1860",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: SERPINA11 as ready",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:55:12.930214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1860",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: serpina11 has been classified as Red List (Low Evidence).",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:55:12.512677+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: SERPINA11 was added\ngene: SERPINA11 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINA11 were set to 38831697\nPhenotypes for gene: SERPINA11 were set to pericardial effusion; pleural effusion\nReview for gene: SERPINA11 was set to RED\ngene: SERPINA11 was marked as current diagnostic\nAdded comment: 1 family with 2 fetuses.\r\n\r\n1st fetus presented with isolated pericardial effusion and a TOP was opted.\r\npost mortem: \r\nmild subcutaneous edema with subtle facial dysmorphic features\r\nsmall gelatinous glistening cyst on the right pericardium. Bilateral pleural effusion and multiple similar cysts were noted on the lung surfaces\r\n\r\n2nd fetus also presented with pleural and pericardial effusion and a TOP was opted\r\npost mortem findings were similar to fetus#1\r\n\r\nhomozygous nonsense variant in SERPINA11 was found p.(Tyr224*)\r\n\r\nImmunofluorescence of lung sections from fetus#1 and a gestation-matched fetus as a control demonstrated undetectable levels of SERPINA11 in the bronchiolar epithelium \nSources: Literature",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:54:53.298695+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1860",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINA11 were changed from to pericardial effusion; pleural effusion",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:54:02.322772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1859",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: SERPINA11: Changed phenotypes: pericardial effusion, pleural effusion",
"entity_name": "SERPINA11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:53:00.599750+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6049",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PSMD11 as ready",
"entity_name": "PSMD11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:53:00.589115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6049",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: psmd11 has been classified as Green List (High Evidence).",
"entity_name": "PSMD11",
"entity_type": "gene"
},
{
"created": "2024-07-03T12:52:53.115166+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6049",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PSMD11 as Green List (high evidence)",
"entity_name": "PSMD11",
"entity_type": "gene"
}
]
}