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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=190",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=188",
"results": [
{
"created": "2025-08-13T18:44:20.605055+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Red List (Low Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:44:17.657256+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RC3H1 were changed from to Inborn error of immunity, MONDO:0003778, RC3H1-related",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:43:19.970301+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RC3H1 as Red List (low evidence)",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:43:19.958480+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Red List (Low Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-13T18:42:59.433752+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RC3H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, RC3H1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-11T09:20:41.829418+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCA as ready",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2025-08-11T09:20:41.819629+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpca has been classified as Green List (High Evidence).",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2025-08-11T09:20:39.205921+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2025-08-11T09:20:09.881566+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMPCA were set to ",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2025-08-11T09:19:44.548839+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:15:46.442203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU5B-1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related to Neurodevelopmental disorder with seizures and joint laxity, MIM# 621302",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:15:09.648185+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU5B-1 were set to https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf; https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:14:43.630194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU5B-1: Changed publications: 40442284; Changed phenotypes: Neurodevelopmental disorder with seizures and joint laxity, MIM# 621302",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:13:34.009349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU5B-1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNU5B-1 related to Neurodevelopmental disorder with seizures and joint laxity, MIM# 621302",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:13:18.021137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU5B-1 were set to https://www.medrxiv.org/content/10.1101/2024.10.04.24314692v1.full.pdf; https://www.medrxiv.org/content/10.1101/2024.10.07.24314689v1",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:12:46.740075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU5B-1: Changed publications: 40442284; Changed phenotypes: Neurodevelopmental disorder with seizures and joint laxity, MIM# 621302",
"entity_name": "RNU5B-1",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:11:20.926445+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related to Developmental and epileptic encephalopathy 119, MIM# 621304",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:10:51.372688+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU2-2P were set to 40210679",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:10:17.034148+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Changed publications: 40210679, 40442284; Changed phenotypes: Developmental and epileptic encephalopathy 119, MIM# 621304",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:09:53.347614+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related to Developmental and epileptic encephalopathy 119, MIM# 621304",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:09:21.814380+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU2-2P were set to 40210679",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:08:45.190165+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Changed publications: 40210679, 40442284; Changed phenotypes: Developmental and epileptic encephalopathy 119, MIM# 621304",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:07:49.044690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related to Developmental and epileptic encephalopathy 119, MIM# 621304",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:07:33.340923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNU2-2P were set to 40210679",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:07:09.002114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Changed publications: 40210679, 40442284",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-10T17:06:28.113435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNU2-2P: Changed phenotypes: Developmental and epileptic encephalopathy 119, MIM# 621304",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2025-08-09T11:21:05.445175+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.17",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: RC3H1 was added\ngene: RC3H1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: RC3H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RC3H1 were set to PMID: 40769319\nReview for gene: RC3H1 was set to AMBER\nAdded comment: 3 individuals (heterozygous c.T674C (p.F225S)) from an extended kindred presenting with a spectrum of infections, lymphoproliferation, and autoimmune manifestations (upper respiratory infections, otitis media, sinusitis, abscess formation, pneumonia, and bacteremia, psoriasis, cytopenias, and liver disease. hyper-inflammation and lymphoproliferation manifesting with exaggerated generalized lymphadenopathy and splenomegaly. Transfected cell model provided functional support.\r\nPrevious single case of HLH in PMID: 31636267 though this patient was homozygous nonsense. \nSources: Literature",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:47:07.732644+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Syndromic disease, MONDO:0002254, NR6A1-related to Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:46:53.395425+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR6A1: Changed phenotypes: Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:46:32.772321+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Syndromic disease, MONDO:0002254, NR6A1-related to Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:46:15.494307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR6A1: Changed phenotypes: Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:41:07.907215+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Syndromic disease, MONDO:0002254, NR6A1-related to Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:40:44.633899+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR6A1: Changed phenotypes: Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:40:29.604404+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR6A1 were changed from Syndromic disease, MONDO:0002254, NR6A1-related to Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:40:01.450142+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR6A1: Changed phenotypes: Oculovertebral syndrome, MIM# 621277",
"entity_name": "NR6A1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:51.948316+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM17 as ready",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:51.941770+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:29.552102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM17 as ready",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:29.540987+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:16.297791+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM17 as ready",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:16.287480+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:04.546062+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM17 as ready",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:38:04.539567+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:37:09.799662+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S1 as ready",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:37:09.789281+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:37:06.188630+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S1 as Green List (high evidence)",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:37:06.181919+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:36:46.341692+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:36:00.656486+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S1 as ready",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:36:00.646315+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:35:57.344294+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:35:30.858308+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S1 as Green List (high evidence)",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:35:30.834963+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:35:09.307339+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:34:39.082079+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S1 as ready",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:34:39.071702+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:34:32.163878+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:33:58.984407+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S1 as Green List (high evidence)",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:33:58.970110+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:32:56.553065+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:31:51.257083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ST5.",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:58.157492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST5 as ready",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:58.146933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st5 has been classified as Green List (High Evidence).",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:50.657487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST5 as Green List (high evidence)",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:50.647393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st5 has been classified as Green List (High Evidence).",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:31.397377+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST5 as ready",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:31.390910+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st5 has been classified as Green List (High Evidence).",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:26.642786+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST5 as Green List (high evidence)",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:26.633098+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st5 has been classified as Green List (High Evidence).",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:30:01.083727+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ST5.",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:29:48.105693+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST5 as ready",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:29:48.095654+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st5 has been classified as Green List (High Evidence).",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:29:41.344955+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST5 as Green List (high evidence)",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:29:41.336965+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st5 has been classified as Green List (High Evidence).",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:29:18.162390+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ST5.",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:27:48.470387+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRYL as Amber List (moderate evidence)",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:27:48.459952+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fryl has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:27:37.346270+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRYL: Added comment: Published literature re-reviewed:\r\nA number of variants reported in currently published gene discovery paper were not absent in gnomAD v4.\r\n\r\nLoss of function is the proposed mechanism of disease however too many NMD predicted variants throughout the gene in gnomAD v4 to be consistent with rare disease.\r\n\r\nFunctional studies performed in drosophila using FRY orthologue, however, humans have two paralogous genes - FRY and FRYL. As such, difficult to translate this model to implications in human disease or even judge to what extent it recapitulates the human phenotype.\r\n\r\nNote multiple isoforms for FRYL however no clear paucity of NMD predicted variants in the population within one region of the gene.\r\n\r\nRequires further literature to establish gene disease association.; Changed rating: AMBER",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:27:19.852303+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRYL as Amber List (moderate evidence)",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:27:19.839330+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fryl has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:26:58.468798+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRYL: Added comment: Published literature re-reviewed:\r\nA number of variants reported in currently published gene discovery paper were not absent in gnomAD v4.\r\n\r\nLoss of function is the proposed mechanism of disease however too many NMD predicted variants throughout the gene in gnomAD v4 to be consistent with rare disease.\r\n\r\nFunctional studies performed in drosophila using FRY orthologue, however, humans have two paralogous genes - FRY and FRYL. As such, difficult to translate this model to implications in human disease or even judge to what extent it recapitulates the human phenotype.\r\n\r\nNote multiple isoforms for FRYL however no clear paucity of NMD predicted variants in the population within one region of the gene.\r\n\r\nRequires further literature to establish gene disease association.; Changed rating: AMBER",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:26:28.889372+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRYL as Amber List (moderate evidence)",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:26:28.882787+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fryl has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:26:05.572375+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRYL: Added comment: Published literature re-reviewed:\r\nA number of variants reported in currently published gene discovery paper were not absent in gnomAD v4.\r\n\r\nLoss of function is the proposed mechanism of disease however too many NMD predicted variants throughout the gene in gnomAD v4 to be consistent with rare disease.\r\n\r\nFunctional studies performed in drosophila using FRY orthologue, however, humans have two paralogous genes - FRY and FRYL. As such, difficult to translate this model to implications in human disease or even judge to what extent it recapitulates the human phenotype.\r\n\r\nNote multiple isoforms for FRYL however no clear paucity of NMD predicted variants in the population within one region of the gene.\r\n\r\nRequires further literature to establish gene disease association.; Changed rating: AMBER",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:24:18.685875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRYL as Amber List (moderate evidence)",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:24:18.668867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fryl has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:23:22.735374+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGFRL1 as ready",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:23:22.723821+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogfrl1 has been classified as Red List (Low Evidence).",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:22:31.927975+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OGFRL1 was added\ngene: OGFRL1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGFRL1 were set to 38699440\nPhenotypes for gene: OGFRL1 were set to Cherubism (MONDO:0007315), OGFRL1-related\nReview for gene: OGFRL1 was set to RED\nAdded comment: 3x individuals from 2 unrelated families with cherubism and homozygous NMD-predicted variants in OGFRL1. In one family, the NMD-predicted OGFRL1 variant was identified in 2x affected individuals and was either heterozygous or absent in 7x unaffected family members tested. OGFRL1 knockout mice and mice carrying a patient frameshift mutation were generated, however, neither mouse model recapitulated human cherubism. Absence of homozygous LoF variants in gnomAD v4. \nSources: Literature",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:21:26.291700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGFRL1 as ready",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:21:26.284902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogfrl1 has been classified as Red List (Low Evidence).",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:20:17.405931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGFRL1 as Red List (low evidence)",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:20:17.394771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogfrl1 has been classified as Red List (Low Evidence).",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T16:02:04.135137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: OGFRL1 was added\ngene: OGFRL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGFRL1 were set to PMID: 38699440\nPhenotypes for gene: OGFRL1 were set to Cherubism (MONDO:0007315), OGFRL1-related\nReview for gene: OGFRL1 was set to RED\nAdded comment: 3x individuals from 2 unrelated families with cherubism and homozygous NMD-predicted variants in OGFRL1. \r\n\r\nIn one family, the NMD-predicted OGFRL1 variant was identified in 2x affected individuals and was either heterozygous or absent in 7x unaffected family members tested. \r\n\r\nOGFRL1 knockout mice and mice carrying a patient frameshift mutation were generated, however, neither mouse model recapitulated human cherubism.\r\n\r\nAbsence of homozygous LoF variants in gnomAD v4. \nSources: Literature",
"entity_name": "OGFRL1",
"entity_type": "gene"
},
{
"created": "2025-08-08T15:12:26.576053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: FRYL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38479391; Phenotypes: Pan-Chung-Bellen syndrome, MIM# 621049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FRYL",
"entity_type": "gene"
},
{
"created": "2025-08-08T14:08:28.147859+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: ST5 was added\ngene: ST5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ST5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ST5 were set to PMID: 40717498\nPhenotypes for gene: ST5 were set to Neurodevelopmental disorder (MONDO:0700092), DENND2B-related\nReview for gene: ST5 was set to GREEN\nAdded comment: HGNC: DENND2B\r\nCohort of 11 individuals all with a history of motor and/or language developmental delay, intellectual disability in 6/11 (mild to severe), brain structure/function abnormalities were reported in 9/11 patients (7/11 seizures; 5/9 abnormal findings on brain MRI), muscle weakness/hypotonia in 8/9, psychosis in 4/10 patients, symptoms of catatonia in 4/10, other psychiatric/behavioural concerns (anxiety, attention deficit, autism or autistic features) in 10/10.\r\n\r\nTotal of 10 variants including 2x frameshift/nonsense, 6x missense, 1x splice, 1x single amino acid deletion – all absent from v4 and de novo except 1 inherited from a father with cognitive and psychiatric symptoms and the inframe del which has 2 hets in gnomAD and is inherited an unaffected father (no formal assessment).\r\n\r\nIn vivo zebrafish modelling measuring cilia length suggests that patient variants tested (9/10 excluding the splice variant) did not induce cilia length shortening, which is consistent with KO models and therefore a loss of function effect. \nSources: Literature",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T14:07:57.036358+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: ST5 was added\ngene: ST5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ST5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ST5 were set to 40717498\nPhenotypes for gene: ST5 were set to Neurodevelopmental disorder (MONDO:0700092), DENND2B-related\nReview for gene: ST5 was set to GREEN\nAdded comment: HGNC: DENND2B\r\nCohort of 11 individuals all with a history of motor and/or language developmental delay, intellectual disability in 6/11 (mild to severe), brain structure/function abnormalities were reported in 9/11 patients (7/11 seizures; 5/9 abnormal findings on brain MRI), muscle weakness/hypotonia in 8/9, psychosis in 4/10 patients, symptoms of catatonia in 4/10, other psychiatric/behavioural concerns (anxiety, attention deficit, autism or autistic features) in 10/10.\r\n\r\nTotal of 10 variants including 2x frameshift/nonsense, 6x missense, 1x splice, 1x single amino acid deletion – all absent from v4 and de novo except 1 inherited from a father with cognitive and psychiatric symptoms and the inframe del which has 2 hets in gnomAD and is inherited an unaffected father (no formal assessment).\r\n\r\nIn vivo zebrafish modelling measuring cilia length suggests that patient variants tested (9/10 excluding the splice variant) did not induce cilia length shortening, which is consistent with KO models and therefore a loss of function effect. \nSources: Literature",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T14:07:26.341942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: ST5 was added\ngene: ST5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ST5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ST5 were set to PMID: 40717498\nPhenotypes for gene: ST5 were set to Neurodevelopmental disorder (MONDO:0700092), DENND2B-related\nReview for gene: ST5 was set to GREEN\nAdded comment: HGNC: DENND2B\r\nCohort of 11 individuals all with a history of motor and/or language developmental delay, intellectual disability in 6/11 (mild to severe), brain structure/function abnormalities were reported in 9/11 patients (7/11 seizures; 5/9 abnormal findings on brain MRI), muscle weakness/hypotonia in 8/9, psychosis in 4/10 patients, symptoms of catatonia in 4/10, other psychiatric/behavioural concerns (anxiety, attention deficit, autism or autistic features) in 10/10.\r\n\r\nTotal of 10 variants including 2x frameshift/nonsense, 6x missense, 1x splice, 1x single amino acid deletion – all absent from v4 and de novo except 1 inherited from a father with cognitive and psychiatric symptoms and the inframe del which has 2 hets in gnomAD and is inherited an unaffected father (no formal assessment).\r\n\r\nIn vivo zebrafish modelling measuring cilia length suggests that patient variants tested (9/10 excluding the splice variant) did not induce cilia length shortening, which is consistent with KO models and therefore a loss of function effect. \nSources: Literature",
"entity_name": "ST5",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:08:33.794258+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1\nPhenotypes for gene: BLOC1S1 were set to Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related\nReview for gene: BLOC1S1 was set to GREEN\nAdded comment: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1.\r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy, and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy.\r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:07:07.711789+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy (in some cases), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \nSources: Literature; to: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy, and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \r\nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
}
]
}