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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=203",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=201",
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{
"created": "2025-07-02T14:06:28.133898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SIDT2 was added\ngene: SIDT2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SIDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIDT2 were set to PMID: 40541391\nPhenotypes for gene: SIDT2 were set to Lysosomal storage disease, MONDO:0002561, SIDT2-related\nReview for gene: SIDT2 was set to AMBER\nAdded comment: Encodes a lysosomal membrane protein involved in trafficking of RNA into the lysosome for degradation via RNAutophagy.\r\n\r\n1 affected individual described in PMID: 40541391 with two variants in SIDT2 presenting with progressive neurological decline in childhood with poor coordination, dysarthria, ataxia, cerebellar atrophy and cognitive decline. One variant confirmed to be maternally inherited, the other inheritance was unknown due to lack of availability of family members (as such phase not confirmed). Variants were c.1586G>A (?listed as p.Arg529Trp however protein consequence should be p.Arg529Gln) and c.2032C>T|p.Arg678Trp. \r\n\r\nFunctional studies of patient fibroblasts showed markers of autophagy impairment and mouse models with reduced expression of SIDT2 had signs of progressive incoordination.\r\nLOF proposed mechanism. \nSources: Literature",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:22:31.552628+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.177",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SMARCC1 as ready",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:22:31.549732+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.177",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: 6/13 developmental delay \r\nmany inherited variants - known reduced penetrance",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:22:31.526280+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.177",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: smarcc1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:21:48.408168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.177",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Classified gene: SMARCC1 as Green List (high evidence)",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:21:48.401018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.177",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: smarcc1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:08:24.738196+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.448",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SMARCC1 as ready",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:08:24.728956+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.448",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: smarcc1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:08:15.418031+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.448",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Classified gene: SMARCC1 as Green List (high evidence)",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T13:08:15.407344+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.448",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: smarcc1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-02T12:50:29.293460+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ADAM23 was added\ngene: ADAM23 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ADAM23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM23 were set to PMID: 40455867\nPhenotypes for gene: ADAM23 were set to Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related\nReview for gene: ADAM23 was set to AMBER\nAdded comment: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 form a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain.\r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \nSources: Literature",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-02T12:49:43.694530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 part of a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain. \r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \r\nSources: Literature; to: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 form a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain. \r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \r\nSources: Literature",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-02T12:49:31.691291+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.157",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ADAM23 was added\ngene: ADAM23 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ADAM23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM23 were set to PMID: 40455867\nPhenotypes for gene: ADAM23 were set to Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related\nReview for gene: ADAM23 was set to AMBER\nAdded comment: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 form a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain.\r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \nSources: Literature",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-02T12:47:47.851950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 part of a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain. \r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \nSources: Literature; to: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 part of a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain. \r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \r\nSources: Literature",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-02T12:47:31.579087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: ADAM23 was added\ngene: ADAM23 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAM23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM23 were set to (PMID: 40455867)\nPhenotypes for gene: ADAM23 were set to Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related\nReview for gene: ADAM23 was set to AMBER\nAdded comment: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 part of a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain. \r\n\r\n1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.\r\nAlso had a de novo missense variant in PRKD1.\r\n\r\nKnockout ADAM23 mice show early lethal epilepsy. \nSources: Literature",
"entity_name": "ADAM23",
"entity_type": "gene"
},
{
"created": "2025-07-02T11:55:53.442973+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "1.1",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: CDH11 was added\ngene: CDH11 was added to Frontonasal dysplasia. Sources: Expert Review\nMode of inheritance for gene: CDH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH11 were set to 33811546\nPhenotypes for gene: CDH11 were set to Teebi hypertelorism syndrome, MONDO:0030639\nReview for gene: CDH11 was set to GREEN\nAdded comment: Affected individuals present with craniofacial features.\r\n\r\nReview from Mendeliome - Li et al (2021) report 19 subjects from 9 families with Teebi hypertelorism syndrome (hypertelorism, prominent forehead, short nose, broad/depressed nasal root, cardiac and umbilical defects). Patients had heterozygous missense variants affected residues in the extracellular region of CDH11. Immunohistochemical study demonstrates that CDH11 is strongly expressed in human facial mesenchyme. Using multiple functional assays, they showed 5 variants significantly reduced the cell-substrate trans adhesion activity and changed cell morphology, focal adhesion, and migration, suggesting dominant negative effect. Some clinical features distinguished this phenotype from that seen in SPECC1L-related hypertelorism syndrome and CDH11-related EWS. 37% of Teebi cohort had ID. All variants were missense. \nSources: Expert Review",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2025-07-02T10:36:25.415876+10:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "1.0",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: APOC2 was added\ngene: APOC2 was added to Amyloidosis. Sources: Literature\nMode of inheritance for gene: APOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: APOC2 were set to 39547356; 27297947; 27840752; 30686043; 30197986\nPhenotypes for gene: APOC2 were set to APOC2-related amyloidosis, MONDO:0019065\nReview for gene: APOC2 was set to AMBER\nAdded comment: Two missense variants appear to be the only two reported heterozygous variants in multiple affected individuals with amyloidosis (PMID: 39547356). Unclear whether these variants are common pathogenic variants. Further functional evidence is required to upgrade the gene to Green.\r\n\r\nPMID: 27297947 (reports the same individual in PMID: 27840752)\r\n61F with history hypertension and hypothyroidism and recent diagnosis of renal amyloidosis confirmed via biopsy\r\nHeterozygous missense variant (E69V - absent in gnomAD v4.1) identified on sequencing which was identified in unaffected son \r\nProteomic analysis identified 7 other elderly probands with renal amyloidosis, aggregation of Apolipoprotein-CII amyloid deposits (genetic testing wasn't conducted on them)\r\n\r\nPMID: 30686043\r\n80M (from Greece)with deteriorated renal function. Biopsy of abdominal fat stained with Congo red was positive for amyloid.\r\nHeterozygous p.Lys41Thr was identified in proband and unaffected son. The variant is present in gnomADv4.1 - NFE FAF - 0.1020%\r\n\r\nPMID: 30197986\r\n5 unrelated patients with AApoCII p.Lys41Thr amyloidosis. Affected individuals presented with a range of symptoms including proteinuria and increased serum creatinine.\r\nAll 5 individuals were >60yrs supporting late age of onset. \nSources: Literature",
"entity_name": "APOC2",
"entity_type": "gene"
},
{
"created": "2025-07-02T00:02:16.053977+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS1 as ready",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-07-02T00:02:16.044683+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-07-02T00:02:04.732285+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBTPS1 as Amber List (moderate evidence)",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-07-02T00:02:04.725244+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-07-02T00:01:54.286001+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS1 was added\ngene: MBTPS1 was added to Ectodermal Dysplasia. Sources: Expert list\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 35362222\nPhenotypes for gene: MBTPS1 were set to CAOP syndrome, MIM#\t621252\nReview for gene: MBTPS1 was set to AMBER\nAdded comment: Two unrelated individuals with compound heterozygous variants in this gene and early-onset lens cataract, generalized non-scarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities. Some supportive functional data. \nSources: Expert list",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-07-01T16:37:52.830244+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.372",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: ADD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34906466; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-01T16:37:31.738197+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: ADD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34906466; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-01T16:36:49.160782+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.545",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: ADD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34906466; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-01T16:35:25.380100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: ADD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34906466; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADD1",
"entity_type": "gene"
},
{
"created": "2025-07-01T15:41:03.061580+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.447",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SMARCC1 was added\ngene: SMARCC1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMARCC1 were set to 38128548\nPhenotypes for gene: SMARCC1 were set to SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123)\nReview for gene: SMARCC1 was set to GREEN\nAdded comment: Phenotype expansion since original literature. Clingen: \"SMARCC1-associated developmental dysgenesis syndrome is characterized by developmental delay, cerebral ventriculomegaly, aqueductal stenosis, and other associated structural brain and cardiac defects.\"\r\n\r\nPMID: 38128548 : 9/10 patients had cardiac defects including atrial septal defect, ventricular septal defect, double outlet right ventricle and cardiac hypoplasia. \nSources: Literature",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-01T15:33:00.106475+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Gemma Edwards",
"item_type": "entity",
"text": "gene: SMARCC1 was added\ngene: SMARCC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC1 were set to 29983323; 37285932\nPhenotypes for gene: SMARCC1 were set to SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123)\nReview for gene: SMARCC1 was set to GREEN\nAdded comment: Phenotype expansion since original literature. ClinGen - \"SMARCC1-associated developmental dysgenesis syndrome is characterized by developmental delay, cerebral ventriculomegaly, aqueductal stenosis, and other associated structural brain and cardiac defects\". See cases in PMIDs 29983323, 37285932. \nSources: Literature",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2025-07-01T11:57:59.227143+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCC6 as Amber List (moderate evidence)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2025-07-01T11:57:59.213442+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.88",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2025-07-01T11:57:38.573636+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.87",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23968982, 20301292; Phenotypes: autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2025-06-30T11:01:32.572957+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.372",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-06-30T11:01:09.271420+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.447",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-06-30T10:59:16.586548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Ava Stevenson",
"item_type": "entity",
"text": "reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23033978, 23314057, 33057194, 30322850, 37405741, 39057643; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:46:13.953003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C10orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1QQ, MIM# 621251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:45:53.331917+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C10orf71 were changed from dilated cardiomyopathy MONDO:0005021 to Cardiomyopathy, dilated, 1QQ, MIM# 621251",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:45:24.092705+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C10orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1QQ, MIM# 621251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C10orf71",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:42:35.535377+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD274 as ready",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:42:35.525291+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd274 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:42:22.859038+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD274 as Amber List (moderate evidence)",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:42:22.851987+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd274 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:41:58.880221+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD274 was added\ngene: CD274 was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD274 were set to 38634869\nPhenotypes for gene: CD274 were set to Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235\nReview for gene: CD274 was set to AMBER\nAdded comment: Two siblings, born to second-degree consanguineous parents of Moroccan descent, both developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By contrast, his sister had no clinical manifestations other than T1D.\r\n\r\nHomozygous for splicing variant. This is the ligand of PD1, deficiency of which is also linked to immune dysregulation. Functional data. \nSources: Literature",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:39:58.146893+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD274 were changed from Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 to Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:39:29.304014+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD274: Changed phenotypes: Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:38:55.618520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD274 were changed from Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 to Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T01:38:23.586700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CD274: Changed phenotypes: Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2025-06-28T00:36:21.843932+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.4",
"user_name": "Katrina Stone",
"item_type": "entity",
"text": "changed review comment from: Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported.\r\nDespite seizure control most patients have developmental delay/Intellectual disability\r\n\r\nConfirmatory test: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated)\r\nPipecolic acid\r\nΔ1-piperideine-6-carboxylate (Δ1-P6C)\r\n\r\nIntervention: Pyridoxine for seizure control.\r\nFrom consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy\r\n\r\nAdditional information\r\nIncidence: 1:65 000 to 1:250 000 live births\r\nOnset of seizures can be outside the neonatal period\r\n\r\nConsensus guideline: PMID: 33200442 \nSources: Other; to: Well established gene disease association\r\nClinGen: strong actionability in paediatric patients\r\n\r\nSummary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported.\r\nDespite seizure control most patients have developmental delay/Intellectual disability\r\n\r\nNon genetic confirmatory tests: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated)\r\nPipecolic acid\r\nΔ1-piperideine-6-carboxylate (Δ1-P6C)\r\n\r\nIntervention: Pyridoxine for seizure control.\r\nFrom consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy\r\n\r\nAdditional information\r\nIncidence: 1:65 000 to 1:250 000 live births\r\nOnset of seizures can be outside the neonatal period\r\n\r\nConsensus guideline: PMID: 33200442\r\n\r\nIncluded in: \r\n\r\nSources: Other",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2025-06-28T00:26:10.641333+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.4",
"user_name": "Katrina Stone",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Genomic newborn screening: ICoNS. Sources: Other\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH7A1 were set to PMID: 20301659; 33200442\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, early-onset, 4, vitamin B6-dependent\nPenetrance for gene: ALDH7A1 were set to Complete\nReview for gene: ALDH7A1 was set to GREEN\nAdded comment: Summary: classic presentation neonatal onset seizures which respond to pyridoxine but are not well controlled with antiepileptics. Later onset of seizures has been reported.\r\nDespite seizure control most patients have developmental delay/Intellectual disability\r\n\r\nConfirmatory test: alpha-aminoadipic semialdehyde (α-AASA) in urine and/or plasma (elevated)\r\nPipecolic acid\r\nΔ1-piperideine-6-carboxylate (Δ1-P6C)\r\n\r\nIntervention: Pyridoxine for seizure control.\r\nFrom consensus guideline: To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy\r\n\r\nAdditional information\r\nIncidence: 1:65 000 to 1:250 000 live births\r\nOnset of seizures can be outside the neonatal period\r\n\r\nConsensus guideline: PMID: 33200442 \nSources: Other",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:33:22.354363+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALT as Green List (high evidence)",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:33:22.347311+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:33:01.225352+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF216 as ready",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:33:01.217639+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:55.414798+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF216 as Green List (high evidence)",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:55.385896+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:34.148885+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PABPC1L as ready",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:34.141912+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpc1l has been classified as Green List (High Evidence).",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:28.690025+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PABPC1L as Green List (high evidence)",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:28.679871+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpc1l has been classified as Green List (High Evidence).",
"entity_name": "PABPC1L",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:07.537499+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC155 as ready",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:07.530451+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc155 has been classified as Green List (High Evidence).",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:01.795949+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC155 as Green List (high evidence)",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:32:01.788448+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc155 has been classified as Green List (High Evidence).",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:54.119617+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: CCDC155.",
"entity_name": "CCDC155",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:30.074168+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:30.059912+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:25.250716+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TWNK as Green List (high evidence)",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:25.241488+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:07.590280+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF8 as ready",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:07.583029+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Green List (High Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:02.059296+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FGF8 as Green List (high evidence)",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:31:02.049434+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Green List (High Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:30:41.436111+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIL as ready",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:30:41.429844+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Red List (Low Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:30:38.404270+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STIL were changed from Recurrent pregnancy loss susceptibility, MONDO:0000144; Primary microcephaly 7, autosomal recessive, MIM# 612703 to Primary microcephaly 7, autosomal recessive, MIM# 612703",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:30:25.357347+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STIL as Red List (low evidence)",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:30:25.347407+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stil has been classified as Red List (Low Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:30:03.798079+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STIL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:29:16.623291+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:28:14.458693+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KISS1R as ready",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:28:14.451407+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiss1r has been classified as Green List (High Evidence).",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:28:09.163653+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KISS1R as Green List (high evidence)",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:28:09.154145+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiss1r has been classified as Green List (High Evidence).",
"entity_name": "KISS1R",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:27:47.051623+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC25A as ready",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:27:47.045347+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc25a has been classified as Green List (High Evidence).",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:27:39.061921+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDC25A were changed from Spermatogenic failure to Spermatogenic failure, MONDO:0004983, CDC25A-related",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:27:18.456277+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC25A as Green List (high evidence)",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:27:18.449182+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc25a has been classified as Green List (High Evidence).",
"entity_name": "CDC25A",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:33.161051+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNRHR as ready",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:33.153810+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrhr has been classified as Green List (High Evidence).",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:24.608186+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNRHR as Green List (high evidence)",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:24.597989+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnrhr has been classified as Green List (High Evidence).",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:07.580095+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PREPL as ready",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:07.573273+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prepl has been classified as Green List (High Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:26:03.453922+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PREPL were changed from Hypergonadotropic hypogonadism to Myasthenic syndrome, congenital, 22, MIM#\t616224; Hypergonadotropic hypogonadism",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:23:18.813859+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PREPL as Green List (high evidence)",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:23:18.801591+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prepl has been classified as Green List (High Evidence).",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:23:00.467614+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPEF2 as ready",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:23:00.457603+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spef2 has been classified as Green List (High Evidence).",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:22:55.225413+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPEF2 as Green List (high evidence)",
"entity_name": "SPEF2",
"entity_type": "gene"
},
{
"created": "2025-06-27T02:22:55.218439+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spef2 has been classified as Green List (High Evidence).",
"entity_name": "SPEF2",
"entity_type": "gene"
}
]
}