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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=495",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=493",
"results": [
{
"created": "2024-02-01T11:24:29.462151+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.178",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CAMK2D as ready",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:29.453011+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.178",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: camk2d has been classified as Green List (High Evidence).",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:26.804076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1502",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CAMK2D as ready",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:26.792520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1502",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: camk2d has been classified as Green List (High Evidence).",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:19.103241+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.178",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CAMK2D as Green List (high evidence)",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:19.050129+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.178",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: camk2d has been classified as Green List (High Evidence).",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:16.246580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1502",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CAMK2D as Green List (high evidence)",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:16.236870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1502",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: camk2d has been classified as Green List (High Evidence).",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:24:04.402774+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.177",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: PMID: 38272033 \r\n- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old\r\n- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological\r\n- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5) \nSources: Literature; to: PMID: 38272033 \r\n- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old\r\n- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological\r\n- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5) \r\nSources: Literature",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:23:48.565439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1501",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAMK2D was added\ngene: CAMK2D was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAMK2D were set to 38272033\nPhenotypes for gene: CAMK2D were set to Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related\nAdded comment: PMID: 38272033 \r\n- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old\r\n- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological\r\n- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5) \nSources: Literature",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:23:41.103742+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.177",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAMK2D was added\ngene: CAMK2D was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAMK2D were set to 38272033\nPhenotypes for gene: CAMK2D were set to Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related\nReview for gene: CAMK2D was set to GREEN\nAdded comment: PMID: 38272033 \r\n- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old\r\n- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological\r\n- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5) \nSources: Literature",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:23:33.229066+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5683",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: CAMK2D as ready",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:23:33.217134+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5683",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: camk2d has been classified as Green List (High Evidence).",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:23:26.807409+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5683",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: CAMK2D as Green List (high evidence)",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:23:26.796087+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5683",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: camk2d has been classified as Green List (High Evidence).",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:20:43.946826+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5682",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAMK2D was added\ngene: CAMK2D was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAMK2D were set to PMID: 38272033\nPhenotypes for gene: CAMK2D were set to Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related\nReview for gene: CAMK2D was set to GREEN\nAdded comment: PMID: 38272033 \r\n- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old\r\n- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological\r\n- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5) \nSources: Literature",
"entity_name": "CAMK2D",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:19:05.113812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERG were changed from Lymphatic malformation 14, MIM# 620602 to Lymphatic malformation 14, MIM# 620602; Myelodysplasia syndrome, MONDO:0018881, ERG-related",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:18:30.760468+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERG were changed from https://ash.confex.com/ash/2023/webprogram/Paper191986.html to Myelodysplasia syndrome, MONDO:0018881, ERG-related",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:18:05.621650+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERG were set to ",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:17:32.894255+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERG: Changed phenotypes: Myelodysplasia syndrome, MONDO:0018881, ERG-related",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:17:15.947140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERG: Changed rating: AMBER; Changed publications: s://ash.confex.com/ash/2023/webprogram/Paper191986.html; Changed phenotypes: Myelodysplasia syndrome, MONDO:0018881, ERG-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:15:17.927369+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERG: Changed publications: https://ash.confex.com/ash/2023/webprogram/Paper191986.html",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:13:19.302046+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Conference abstract:\r\n\r\n15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lympheedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants. \nSources: Literature; to: Conference abstract:\r\n\r\n15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lymphoedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants. \r\nSources: Literature",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:12:56.212303+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERG as ready",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:12:56.199620+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:12:37.381768+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERG as Amber List (moderate evidence)",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:12:37.362690+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erg has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-02-01T11:12:06.151085+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERG was added\ngene: ERG was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html\nReview for gene: ERG was set to AMBER\nAdded comment: Conference abstract:\r\n\r\n15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lympheedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants. \nSources: Literature",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-01-31T08:05:47.603666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBMX were changed from Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2024-01-31T08:05:21.585645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBMX were set to 25256757; 34260915",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2024-01-31T08:05:00.491998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBMX: Added comment: PMID 37277488: In-frame deletion reported in a large multiplex Swedish family; Changed publications: 25256757, 34260915, 37277488; Changed phenotypes: Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238, Gustavson syndrome, MIM# 309555",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2024-01-31T08:04:03.465843+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBMX were changed from Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238; Gustavson syndrome, MIM# 309555",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2024-01-31T08:03:06.589741+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBMX were set to 25256757; 34260915",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2024-01-31T08:02:35.399033+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBMX: Added comment: PMID 37277488: In-frame deletion reported in a large multiplex Swedish family; Changed publications: 25256757, 34260915, 37277488; Changed phenotypes: Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238, Gustavson syndrome, MIM# 309555",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:58:19.336673+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2196",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:58:19.319637+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2196",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Red List (Low Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:57:35.718684+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2196",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LMX1B were set to Focal segmental glomerulosclerosis 10\tMIM#256020; Nail-patella syndrome MIM#161200\nReview for gene: LMX1B was set to RED\nAdded comment: GeneReviews - Epilepsy was reported in 6% of affected individuals in one large study [Sweeney et al 2003].\r\n\r\nNo new literature describing SNVs in this gene and epilepsy/seizures. \r\n\r\nGene was listed on Oliver's list \nSources: Literature",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:38:34.893088+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2195",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: LMNB2 was added\ngene: LMNB2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMNB2 were set to PMID: 33783721; 25954030; 34466237\nPhenotypes for gene: LMNB2 were set to ?Epilepsy, progressive myoclonic, 9 MIM#616540\nReview for gene: LMNB2 was set to AMBER\nAdded comment: PMID: 33783721 - hom missense p.(Arg158Trp) in a proband with Progressive myoclonus epilepsies. No functional studies to validate the missense variant\r\n\r\nPMID: 25954030 - hom missense p.(His157Tyr) in a proband with Progressive myoclonus epilepsies. In vitro assembly analysis of mutant lamin B2 protein revealed a distinct defect in the assembly of the highly ordered fibrous arrays typically formed by wild-type lamin B2, variant segregated in the affected sister\r\n\r\nPMID: 34466237 - Hom missense p.(Arg158Leu) in a 5yo boy with progressive wide-based ataxic gait and intractable myoclonic seizure. All unaffected relatives (13) were het or wildtype\r\n\r\nAssociation to epilepsy is amber and biallelic\r\nSeizures noted as a rare feature of dominant disease in OMIM \nSources: Literature",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:16:37.715349+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2194",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: L2HGDH as Green List (high evidence)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:16:37.708006+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2194",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:15:22.556594+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2193",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: L2HGDH as Green List (high evidence)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:15:22.547941+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2193",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:15:10.852469+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2192",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: L2HGDH as ready",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:15:10.840425+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2192",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Red List (Low Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:14:26.940625+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2192",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: L2HGDH were set to PMID: 37113859\nPhenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792\nReview for gene: L2HGDH was set to GREEN\nAdded comment: PMID: 37113859 - two sisters with a hom PTC, features included delayed milestones, both had generalised tonic clonic seizures associated with fever in childhood. Reviews literature, notes seizures observed in 26% of patients \nSources: Literature",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:06:34.439484+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2191",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KRIT1 as Green List (high evidence)",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:06:34.427256+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2191",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Green List (High Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:06:13.071398+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2191",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KRIT1 as Green List (high evidence)",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:06:13.062011+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2191",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Green List (High Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:05:56.413178+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2190",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KRIT1 as ready",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:05:56.390207+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2190",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: krit1 has been classified as Red List (Low Evidence).",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T14:05:00.917542+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2190",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KRIT1 was added\ngene: KRIT1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRIT1 were set to 35836010; 35444609\nPhenotypes for gene: KRIT1 were set to Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Cavernous malformations of CNS and retina\tMIM#116860; Cerebral cavernous malformations-1 MIM#116860\nReview for gene: KRIT1 was set to GREEN\nAdded comment: Seizures noted as a feature in OMIM\r\n\r\nPMID: 35836010 - proband presenting with seizures, nausea and vomiting, tachycardia, and bulging fontanelles\r\n\r\nPMID: 35444609 - Family with CCM, segregated extensively. Only a single relative had seizures, but infrequently. Review, notes ~60% of individuals with cavernous hemangioma will experience seizures\r\n\r\nGeneReviews - \"The cumulative incidence of childhood seizures is ~20% (~60% by age 80 yrs).\" \nSources: Literature",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2024-01-29T12:09:10.882582+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2189",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KMT2B as ready",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-01-29T12:09:10.866089+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2189",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kmt2b has been classified as Red List (Low Evidence).",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-01-29T12:08:48.224483+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2189",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KMT2B was added\ngene: KMT2B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2B were set to PMID: 34477219; 37309110\nPhenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset\tMIM#617284; Intellectual developmental disorder, autosomal dominant 68 MIM#619934\nReview for gene: KMT2B was set to RED\nAdded comment: PMID: 34477219 - Single 30yo patient with a canonical splice variant resulting in inframe exon 8 skipping. Presented with adult-onset cerebellar ataxia, minor dystonia, neuropathy and seizure \r\n\r\nPMID: 37309110 - large review study, no patients specified to have seizures/epilepsy\r\n\r\nGene was listed in the Oliver review \nSources: Literature",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:58:10.809854+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KMT2A as Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:58:10.794440+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:57:48.710152+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KMT2A as Green List (high evidence)",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:57:48.699525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2188",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:57:31.274023+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2187",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:57:31.255837+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2187",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Red List (Low Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-29T11:57:12.445503+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2187",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KMT2A was added\ngene: KMT2A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2A were set to PMID: 37075569\nPhenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130\nReview for gene: KMT2A was set to GREEN\nAdded comment: OMIM notes seizures were observed in a single patient\r\n\r\nPMID: 37075569 - couldnt access paper, but abstract notes five patients with DEE, where epilepsy ranged from drug resistant to self-limited. Reviews literature and notes 33 patients with epilepsy, but limited clinical details. \nSources: Literature",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:30:45.908441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCTS1 were changed from Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related to Immunodeficiency 118, mycobacteriosis, MIM#\t301115",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:30:03.292710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCTS1: Changed phenotypes: Immunodeficiency 118, mycobacteriosis, MIM# 301115",
"entity_name": "MCTS1",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:29:19.120261+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:28:45.911615+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:28:00.349139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:27:28.552173+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2024-01-28T17:26:56.114499+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLA2G16: Changed rating: GREEN; Changed phenotypes: Lipodystrophy, familial partial, type 9, MIM# 620683; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:46:27.514685+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2186",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KDM6A as ready",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:46:27.497203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2186",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kdm6a has been classified as Red List (Low Evidence).",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:45:25.877460+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2186",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KDM6A were set to PMID: 28442529\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2\tMIM#300867\nReview for gene: KDM6A was set to RED\nAdded comment: PMID: 28442529 - describes generalized epilepsy with febrile seizures plus in a family with a co-segregating SCN1A variant. Proband had GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. \r\n\r\nGene was on the Oliver list \nSources: Literature",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:36:09.947577+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2185",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KDM5A as ready",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:36:09.922375+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2185",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kdm5a has been classified as Red List (Low Evidence).",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:35:57.710183+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2185",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KDM5A was added\ngene: KDM5A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KDM5A were set to PMID: 34210021\nPhenotypes for gene: KDM5A were set to Neurodevelopmental disorder MONDO:0700092, KDM5A-related\nReview for gene: KDM5A was set to RED\nAdded comment: PMID: 34210021 - large multigene deletion in a family with ID, epilepsy and schizophrenia. This gene and CACNA1C were considered the best candidates.\r\n\r\nNo evidence of SNVs in this gene causing epilepsy. This gene was on the Oliver list \nSources: Literature",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:27:40.128661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1495",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5A were changed from autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to autism spectrum disorder, MONDO:0005258; Neurodevelopmental disorder MONDO:0700092, KDM5A-related",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-01-25T16:22:12.276726+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2184",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KATNB1 were set to PMID: 26640080\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly MIM#616212\nReview for gene: KATNB1 was set to RED\nAdded comment: PMID: 26640080 - Proband with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. Seizures developed by 6mo, had a homozygous canonical splice deletion\r\n\r\nPMID: 31484711 - describes patients with seizures (epilepsy was documented in 69%) from a cohort with subcortical heterotopic gray matter malformations, but unclear which were specific for this gene \nSources: Literature",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2024-01-25T15:14:11.623870+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2183",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KAT6A as ready",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T15:14:11.612182+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2183",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T15:14:09.091551+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2183",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KAT6A as Green List (high evidence)",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T15:14:09.078912+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2183",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T15:13:19.079926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2182",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KAT6A were set to PMID: 34748993\nPhenotypes for gene: KAT6A were set to Arboleda-Tham syndrome MIM#616268\nReview for gene: KAT6A was set to GREEN\nAdded comment: PMID: 34748993 - 2 new probands with KAT6A syndrome and epilepsy.\r\nProband 1 - Epilepsy onset was at 3 months of age when daily right hemiclonic seizures appeared in sleep. Had a de novo missense, previously reported as pathogenic.\r\nProband 2 - Seizures onset was at 5 months with daily clusters of symmetric spasms characterized by flexion of the arms, extension of the legs and eyes’ rolling. Had a de novo PTC\r\n\r\nPaper then reviews literature, notes 17/90 probands had epilepsy \nSources: Literature",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:42:15.060613+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KANSL1 as Green List (high evidence)",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:42:15.044082+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2181",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Green List (High Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:41:17.821622+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2180",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KANSL1 as ready",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:41:17.800702+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2180",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kansl1 has been classified as Red List (Low Evidence).",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:41:12.420124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2180",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KANSL1 were set to PMID: 28440867\nPhenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome MIM#610443\nReview for gene: KANSL1 was set to GREEN\nAdded comment: GeneReviews: describes seizures/epilepsy as a less common trait, where OMIM notes its in 50% of cases.\r\n\r\nPMID: 28440867 - Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features. \nSources: Literature",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:37:55.950733+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2179",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: JMJD1C as Amber List (moderate evidence)",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:37:55.930360+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2179",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: jmjd1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:34:42.285585+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2178",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: JMJD1C as Amber List (moderate evidence)",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:34:42.273606+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2178",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: jmjd1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:34:25.463831+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2177",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: JMJD1C as ready",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:34:25.444693+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2177",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: jmjd1c has been classified as Red List (Low Evidence).",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:34:01.133193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2177",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: JMJD1C was added\ngene: JMJD1C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JMJD1C were set to PMID: 32996679; 26181491; 31954878\nPhenotypes for gene: JMJD1C were set to Intellectual disability (MONDO#0001071), JMJD1C-related\nReview for gene: JMJD1C was set to AMBER\nAdded comment: PMID: 32996679 - de novo synonymous variant resulting in a 21bp deletion, who had learning disability and myoclonic epilepsy (onset 10yo). \r\nPaper reviews prev reports, notes only 1/19 other patients with seizures (p.P163L)\r\n\r\nPMID: 26181491 - de novo p.P163L (same as above), in a proband with gait dyspraxia, hand-washing stereotype, learning impairment, teeth grinding, air swallowing, kyphoscoliosis, and tonic epilepsy. Functional studies support missense pathogenicity.\r\n\r\nPMID: 31954878 - 2/7 patients with de novo variants with ASD, ID and seizures. One proband had a de novo missense (p.V117I), another a PTC (p.P109Lfs*3) of unknown inheritance \nSources: Literature",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:21:11.621600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5678",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: JMJD1C were changed from Intellectual disability to Intellectual disability (MONDO#0001071), JMJD1C-related",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:21:02.754054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1494",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: JMJD1C were changed from Intellectual disability to Intellectual disability (MONDO#0001071), JMJD1C-related",
"entity_name": "JMJD1C",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:19:45.378150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2176",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: JARID2 was added\ngene: JARID2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JARID2 were set to PMID: 22480366\nPhenotypes for gene: JARID2 were set to Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098\nReview for gene: JARID2 was set to RED\nAdded comment: PMID: 22480366 - part of a larger multigene deletion, where a patient had seizures.\r\n\r\nNo patients with seizures reported with SNVs, but on the Oliver list as a gene to be considered. \nSources: Literature",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:15:51.152308+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2175",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:15:51.137277+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2175",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Red List (Low Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2024-01-25T14:15:44.803765+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2175",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional 5A, intermediate\tMIM#619816; Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730\nReview for gene: ITGB4 was set to RED\nAdded comment: No reports of seizures/epilepsy in probands with biallelic variants in this gene \nSources: Literature",
"entity_name": "ITGB4",
"entity_type": "gene"
}
]
}