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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=535",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=533",
"results": [
{
"created": "2023-10-26T12:33:39.169264+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2023-10-26T12:32:35.968810+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPINA1 as Green List (high evidence)",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2023-10-26T12:32:35.934714+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2023-10-26T12:31:29.998106+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINA1 was added\ngene: SERPINA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINA1 were set to 33516773\nPhenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, MIM#\t613490\nReview for gene: SERPINA1 was set to GREEN\nAdded comment: Panniculitis is a very rare, but severe, potentially fatal, feature of AAT deficiency. \nSources: Expert Review",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2023-10-26T09:35:35.016733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1325",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SAT1 as Green List (high evidence)",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2023-10-26T09:35:34.999243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1325",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Green List (High Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2023-10-26T09:35:19.482028+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1324",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35977808; Phenotypes: Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2023-10-26T09:34:47.953382+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SAT1 as Green List (high evidence)",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2023-10-26T09:34:47.941706+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Green List (High Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2023-10-26T09:34:19.395435+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35977808; Phenotypes: PMID: 35977808; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2023-10-26T07:15:48.369438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR156 were changed from Sensorineural hearing loss, MONDO:60700002, GPR156-related to Deafness, autosomal recessive 121, MIM# 620551",
"entity_name": "GPR156",
"entity_type": "gene"
},
{
"created": "2023-10-26T07:15:26.162311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 121, MIM# 620551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR156",
"entity_type": "gene"
},
{
"created": "2023-10-26T07:15:06.198090+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR156 were changed from Sensorineural hearing loss, MONDO:60700002, GPR156-related to Deafness, autosomal recessive 121, MIM# 620551",
"entity_name": "GPR156",
"entity_type": "gene"
},
{
"created": "2023-10-26T07:14:34.163543+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPR156: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 121, MIM# 620551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR156",
"entity_type": "gene"
},
{
"created": "2023-10-26T07:08:44.472730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, MIM# 607596; Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia to Pontocerebellar hypoplasia type 1A, MIM# 607596; Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2023-10-26T07:08:18.990406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VRK1: Changed phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:42:02.132109+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23879989, 32315467; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536, MONDO:0012516); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:26:17.750507+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.170",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: ABCC9: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:25:43.950586+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.170",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 27532257, 28991257, 36129056, 31575858, 15034580; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome) (MIM#239850), AD, Intellectual disability and myopathy syndrome (MIM#619719), AR, Cardiomyopathy, dilated, 1O (MIM#608569), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:15:03.636519+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:15:03.625522+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:15:01.070817+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from to CHARGE syndrome (MIM# 214800)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:14:29.808904+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD7 were set to ",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:14:04.022174+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:08:29.439366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAND2 were changed from Congenital heart defects to Congenital heart disease, MONDO:0005453, HAND2-related",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:07:53.409058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAND2 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, HAND2-related",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:07:17.516504+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAND2 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, HAND2-related",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2023-10-25T17:06:17.093341+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAND2 were set to 26865696; 32134193; 26676105; 30217752; 20819618",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2023-10-25T11:20:41.288419+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5B were changed from Intellectual disability and/or autism, autosomal dominant to Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant; Intellectual developmental disorder, autosomal recessive 65 (MIM#618109)",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-25T11:19:59.580840+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-25T11:19:07.064339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5B were changed from Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant to Mental retardation, autosomal recessive 65 MIM#618109; Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-25T11:18:11.600590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5B were changed from Mental retardation, autosomal recessive 65 MIM#618109; Intellectual disability and/or autism, autosomal dominant to Mental retardation, autosomal recessive 65 MIM#618109; Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-25T09:32:51.699317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5596",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-25T09:32:24.758155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1320",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-25T09:29:43.706105+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.193",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, Intellectual developmental disorder, autosomal recessive 65 (MIM#618109); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2023-10-23T16:06:31.066800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5596",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2023-10-23T16:05:57.021493+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5595",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: >3 unrelated probands and supporting mouse model\r\nPMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity\r\nPMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder\r\nPMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines\r\nDOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo. \nSources: Literature; to: >3 unrelated probands and supporting mouse model\r\nPMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity\r\nPMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder\r\nPMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines\r\nPMID: 34527963 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo. \r\nSources: Literature",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2023-10-23T16:05:47.031557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5595",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PTPN4: Changed publications: 17953619, 25424712, 30238967, 34527963",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2023-10-23T16:04:51.068510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2023-10-23T16:04:26.292592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PTPN4: Changed publications: 17953619, 25424712, 30238967, 34527963",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2023-10-23T16:04:05.628125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: >3 unrelated probands and supporting mouse model\r\nPMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity\r\nPMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder\r\nPMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines\r\nDOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo. \nSources: Literature; to: >3 unrelated probands and supporting mouse model\r\nPMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity\r\nPMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder\r\nPMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines\r\nPMID: 34527963 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo. \r\nSources: Literature",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2023-10-23T14:42:28.198319+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.295",
"user_name": "Chris McEvoy",
"item_type": "entity",
"text": "changed review comment from: Single additional relevant reports detailing associations between HAND2 variants and cardiac defects published since previous review (Jan 2022). No segregation analysis, de nova mutation is large deletion encompassing 3 genes:\r\nPMID: 36427970 Chen et al 2022. Prenatal detection of de novo 17.8Mb deletion of 4q34.1→qter including HAND2, SORBS2 and DUX4. Associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect (CHD) on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result.\r\n\r\nNo pathogenic variants listed in Clinvar apart from p.(Glu67*) - see previously reviewed PMID:30217752.\r\n\r\nInsufficient additional evidence to change gene rating from Amber.; to: Single additional relevant report detailing associations between HAND2 variants and cardiac defects published since previous review (Jan 2022). No segregation analysis, de novo mutation is large deletion encompassing 3 genes:\r\nPMID: 36427970 Chen et al 2022. Prenatal detection of de novo 17.8Mb deletion of 4q34.1→qter including HAND2, SORBS2 and DUX4. Associated with low pregnancy associated plasma protein-A (PAPP-A) and low placental growth factor (PlGF) in the first-trimester maternal serum screening, congenital heart defect (CHD) on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result.\r\n\r\nNo pathogenic variants listed in Clinvar apart from p.(Glu67*) - see previously reviewed PMID:30217752.\r\n\r\nInsufficient additional evidence to change gene rating from Amber.",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2023-10-23T14:25:48.845805+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.295",
"user_name": "Purvi Kakadiya",
"item_type": "entity",
"text": "changed review comment from: De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects.\r\nThus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart disease.; to: De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause of CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects.\r\nThus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart defect.",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-23T14:24:24.203075+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.295",
"user_name": "Purvi Kakadiya",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31833191, 15300250, 16400610, 16155193, 17334995; Phenotypes: CHARGE syndrome (MIM# 214800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2023-10-23T09:22:22.048319+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.295",
"user_name": "Chris McEvoy",
"item_type": "entity",
"text": "reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36427970; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HAND2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:40:15.518217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:39:59.432876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFHX3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:39:32.945590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZFHX3: Added comment: 41 individuals with protein truncating variants (PTVs) or (partial) deletions of ZFHX3. Presentations included (mild) ID and/or behavioural problems, postnatal growth retardation, feeding difficulties, dysmorphism (rarely cleft palate). Nuclear abundance of ZFHX3 increases during human brain development and neuronal differentiation in neural stem cells and SH-SY5Y cells, ZFHX3 interacts with the chromatin remodelling BRG1/Brm-associated factor complex and the cleavage and polyadenylation complex. ZFHX3 haploinsufficiency associates with a specific DNA methylation profile in leukocyte-derived DNA, and participates in chromatin remodelling and mRNA processing.; Changed publications: 37292950; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:38:36.392124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFHX3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:38:08.461024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZFHX3 were set to ",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:36:43.617203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMG8 were set to PMID: 31130284",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:34:28.101789+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHA2 as ready",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:34:28.088865+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha2 has been classified as Green List (High Evidence).",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:33:58.520720+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHA2 as Green List (high evidence)",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:33:58.512444+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha2 has been classified as Green List (High Evidence).",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:33:29.822904+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHA2 was added\ngene: EPHA2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review\nMode of inheritance for gene: EPHA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EPHA2 were set to 35918037\nPhenotypes for gene: EPHA2 were set to microphthalmia, MONDO:0021129, EPHA2-related\nReview for gene: EPHA2 was set to GREEN\nAdded comment: Variants in this gene are responsible for multiple eye phenotypes including microphthalmia, reviewed in PMID 35918037 \nSources: Expert Review",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:31:40.498580+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHA2 as ready",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:31:40.486784+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha2 has been classified as Green List (High Evidence).",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:31:37.709906+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHA2 were changed from to Cataract 6, multiple types, MIM# 116600",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:31:07.417293+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPHA2 were set to ",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:17:47.868581+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:17:17.502163+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19005574, 19649315, 19306328, 33671840, 35918037, 34638995; Phenotypes: Cataract 6, multiple types, MIM# 116600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:16:20.332551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPHA2 were set to 19005574; 19649315; 19306328; 33671840",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:15:28.893976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHA2 were changed from cataract 6 multiple types MONDO:0007288 to cataract 6 multiple types MONDO:0007288; microphthalmia, MONDO:0021129, EPHA2-related",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T17:14:59.609583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-21T16:53:10.998491+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Green List (high evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2023-10-21T16:53:10.982571+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Green List (High Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2023-10-21T16:52:56.682211+11:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CBS: Added comment: Upgraded to Green following reassessment of mapping issues on WGS vs ES.; Changed rating: GREEN",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:50:09.997513+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG3 as ready",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:50:09.986097+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:49:59.645414+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:49:59.632564+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:49:27.453842+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG3 was added\ngene: COG3 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG3 were set to 37711075\nPhenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, MIM# 620546\nReview for gene: COG3 was set to AMBER\nAdded comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. \nSources: Literature",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:47:39.631086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:46:52.844057+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:46:31.844233+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:45:58.702862+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:45:38.650738+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:45:06.805891+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:44:42.702766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM#\t620546",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:44:16.501293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:43:05.978313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:42:51.229738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS15: Changed phenotypes: Arthrogryposis, distal, type 12, MIM# 620545",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:42:29.834098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:42:09.836455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 12, MIM# 620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:41:48.855638+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS15 were changed from Arthrogryposis (MONDO:0008779), ADMATS15-related to Arthrogryposis, distal, type 12, MIM# 620545",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2023-10-21T12:41:16.068915+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 12, MIM# 620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2023-10-20T10:48:54.376088+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.8",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2023-10-20T10:48:40.619434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1312",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; MONDO:0014866 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2023-10-20T10:47:23.447548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1311",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2023-10-20T10:46:43.587426+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: DNAJB2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881); Mode of inheritance: None",
"entity_name": "DNAJB2",
"entity_type": "gene"
},
{
"created": "2023-10-20T08:32:54.296624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: EGF: LIMITED by ClinGen.",
"entity_name": "EGF",
"entity_type": "gene"
},
{
"created": "2023-10-20T08:32:31.577674+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGF as ready",
"entity_name": "EGF",
"entity_type": "gene"
},
{
"created": "2023-10-20T08:32:31.572225+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: LIMITED by ClinGen.",
"entity_name": "EGF",
"entity_type": "gene"
},
{
"created": "2023-10-20T08:32:31.521377+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egf has been classified as Red List (Low Evidence).",
"entity_name": "EGF",
"entity_type": "gene"
},
{
"created": "2023-10-20T04:05:25.088396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1311",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33671840, 35918037; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2023-10-20T02:33:47.389648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1311",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34761517; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:52:15.453457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528; Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:51:41.442714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTAN1: Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related, Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528, Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-19T08:51:03.717008+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5; OMIM #613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related to Developmental and epileptic encephalopathy 5; OMIM #613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538",
"entity_name": "SPTAN1",
"entity_type": "gene"
}
]
}