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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=825",
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"results": [
{
"created": "2022-05-29T12:13:49.752391+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:13:31.373997+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:12:58.583743+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:12:43.545329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:12:06.685921+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:11:46.028898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:11:24.215869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:11:05.074399+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM#\t619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:10:29.337565+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:07:50.561734+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:07:14.740709+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:06:59.040291+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:06:16.009860+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:05:46.444869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:05:22.794671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:03:05.516356+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKBKG: Changed publications: 31874111, 35289316",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:02:48.452595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKBKG were set to ",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:02:27.782422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300 to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:01:47.875360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKBKG: Added comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).\r\n\r\nNote variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; Changed phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:00:33.606052+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:00:33.584177+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:00:17.464739+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKBKG as Green List (high evidence)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T12:00:17.449911+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-29T11:59:41.859014+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IKBKG were set to 31874111; 35289316\nPhenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked, MIM#\t301081\nReview for gene: IKBKG was set to GREEN\nAdded comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature.\r\n\r\n6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).\r\n\r\nNote variants in this gene are associated with immunodeficiency +/- ectodermal features. \nSources: Expert list",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:37:51.414802+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO9A were set to 27259756; 29462312; 26752647",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:37:37.572432+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Amber List (moderate evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:37:37.560389+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:37:25.104090+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; to: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.\r\n\r\nHowever, also note reports of fetal akinesia and hydrocephalus, which are pertinent to this panel.",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:36:24.897811+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO9A: Changed publications: 31130284, 30237576",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:34:43.415031+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:34:28.185094+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Amber List (moderate evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:34:28.170586+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:34:20.315752+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER; Changed phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:33:53.995845+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Amber List (moderate evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:33:53.980145+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:33:44.940195+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:30:11.774966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Amber List (moderate evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:30:11.762313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:29:49.838096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:29:29.915665+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO9A were changed from MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198 to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:28:56.682019+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO9A as Amber List (moderate evidence)",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:28:56.663665+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T18:28:25.868623+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-05-27T10:44:36.179350+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: SPTAN1: Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans.\r\n\r\nXie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation.\r\n\r\nVan de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.; Changed publications: PMID: 35150594, 34526651, 31515523; Changed phenotypes: Spastic Paraplegia",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-05-27T10:43:18.187505+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Green List (high evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-05-27T10:43:18.176152+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-05-27T10:43:03.417296+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SPTAN1 was added\ngene: SPTAN1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SPTAN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTAN1 were set to PMID: 35150594, 34526651, 31515523\nPhenotypes for gene: SPTAN1 were set to Spastic Paraplegia\nReview for gene: SPTAN1 was set to GREEN\nAdded comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans. \r\n\r\nXie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation. \r\n\r\nVan de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat. \nSources: Literature",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:10:54.073027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental and epileptic encephalopathy 102, MIM# 619881",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:10:15.561981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:09:52.515090+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:09:09.791179+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:08:51.778871+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:08:16.951424+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:07:52.879048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-27T06:07:24.414359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC38A3",
"entity_type": "gene"
},
{
"created": "2022-05-26T10:17:34.234141+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.111",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZDHHC9 were set to 29681091\nReview for gene: ZDHHC9 was set to GREEN\nAdded comment: Macrocephaly reported in at least 5 individuals with ZDHHC9 variants and related conditions \nSources: Literature",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:30:56.895092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.13",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: FAT2 were set to 29053796",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:30:44.079957+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.13",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: FAT2 as Green List (high evidence)",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:30:44.067193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.13",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: fat2 has been classified as Green List (High Evidence).",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:30:24.310134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.12",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33884300, 29053796; Phenotypes: Spinocerebellar ataxia 45, MIM#617769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FAT2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:14:59.764108+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:14:42.282811+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:14:06.088165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:13:45.648707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GFRA1: Changed phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:12:22.163560+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB2 were changed from Osteoporosis and developmental delay to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:11:43.809433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB2: Changed phenotypes: Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:11:26.844461+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB2 were changed from Osteoporosis, recurrent fractures and developmental delay to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:10:54.784607+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COPB2: Changed phenotypes: Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:10:21.538465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COPB2 were changed from Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis and developmental delay to Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM#\t619884",
"entity_name": "COPB2",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:08:36.182285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:08:14.652858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP13A3: Changed phenotypes: Primary pulmonary hypertension 5, MIM#265400",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:07:20.656627+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2022-05-26T09:07:05.819231+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary pulmonary hypertension 5, MIM#265400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2022-05-25T14:01:15.004412+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX2 as ready",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T14:01:14.988814+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:59:36.005754+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX2 as Amber List (moderate evidence)",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:59:35.991336+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:59:03.158686+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBFOX2 was added\ngene: RBFOX2 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492\nPhenotypes for gene: RBFOX2 were set to Hypoplastic left heart syndrome (HLHS) MONDO:0004933\nReview for gene: RBFOX2 was set to AMBER\nAdded comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS. \nSources: Expert Review",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:58:23.427472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX2 as ready",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:58:23.411828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:58:14.260455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) to Hypoplastic left heart syndrome (HLHS) MONDO:0004933",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:56:59.734879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX2 as Amber List (moderate evidence)",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T13:56:59.721477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX2",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:57:56.968347+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECOM as ready",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:57:56.955387+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecom has been classified as Green List (High Evidence).",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:57:34.432338+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECOM as ready",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:57:34.419813+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecom has been classified as Green List (High Evidence).",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:56:24.190759+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD1 as ready",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:56:24.178314+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add1 has been classified as Green List (High Evidence).",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:56:20.873102+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related; Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:55:32.309087+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADD1 as ready",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:55:32.295361+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: add1 has been classified as Green List (High Evidence).",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:55:26.084608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related; Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:53:40.206338+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROSER1 as ready",
"entity_name": "PROSER1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:53:40.185633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proser1 has been classified as Red List (Low Evidence).",
"entity_name": "PROSER1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:53:28.690640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROSER1 was added\ngene: PROSER1 was added to Mendeliome. Sources: Expert Review\nfounder tags were added to gene: PROSER1.\nMode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PROSER1 were set to 35229282\nPhenotypes for gene: PROSER1 were set to Syndromic disease MONDO:0002254, PROSER1-related\nReview for gene: PROSER1 was set to RED\nAdded comment: 4 children from 3 related families with developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, genitourinary malformations, and common facial features (arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing). WES revealed a homozygous frame-shift variant (p.Thr612Glnfs*22) in PROSER1. This encodes the proline and serine rich protein 1, part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation. No functional assays and 3 related families, likely founder effect. \nSources: Expert Review",
"entity_name": "PROSER1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:52:36.457170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROSER1 were changed from Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM # to Syndromic disease MONDO:0002254, PROSER1-related; Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM #",
"entity_name": "PROSER1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:50:08.686321+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROSER1 as ready",
"entity_name": "PROSER1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:50:08.667836+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proser1 has been classified as Red List (Low Evidence).",
"entity_name": "PROSER1",
"entity_type": "gene"
},
{
"created": "2022-05-25T12:49:53.008625+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: PROSER1.",
"entity_name": "PROSER1",
"entity_type": "gene"
}
]
}