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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=510",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=508",
"results": [
{
"created": "2023-12-07T13:15:57.642547+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.25",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (MIM#609040) to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040); Dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:15:36.703199+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.24",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: PKP2 were set to 15489853; 16567567",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:15:21.782356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1408",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD \r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members \r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD \r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members \r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature",
"entity_name": "SV2A",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:15:13.845312+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature",
"entity_name": "SV2A",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:15:10.912478+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.24",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:14:19.020962+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5631",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: None; Publications: (PMID: 35718084, 36426412); Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2 (MIM#618324); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUK",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:49.661426+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.14",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ACBD6 as Green List (high evidence)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:49.653463+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.14",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acbd6 has been classified as Green List (High Evidence).",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:40.297848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1408",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37947183; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), CRELD1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:16.890293+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ACBD6 as Green List (high evidence)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:16.877579+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acbd6 has been classified as Green List (High Evidence).",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:05.974449+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.13",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ACBD6 as Green List (high evidence)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:13:05.961635+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.13",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acbd6 has been classified as Green List (High Evidence).",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:59.890099+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.12",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACBD6 as ready",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:59.875113+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.12",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acbd6 has been removed from the panel.",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:49.772833+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.233",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ACBD6 as Green List (high evidence)",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:49.764163+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.233",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acbd6 has been classified as Green List (High Evidence).",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:43.862514+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACBD6 as ready",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:43.845671+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acbd6 has been removed from the panel.",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:12:16.710250+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5631",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRELD1 were set to PMID: 37947183\nPhenotypes for gene: CRELD1 were set to Neurodevelopmental disorder (MONDO:0700092), CRELD1-related\nReview for gene: CRELD1 was set to GREEN\nAdded comment: Publication reports 18 individuals from 14 unrelated families affected by biallelic recessive variants in CRELD1, presenting with early-onset neurodevelopmental features, most notably hypotonia and epilepsy, with developmental plateauing and slowly progressive nonneurologic medical complexities in survivors, including cardiac rhythm disturbances and frequent infections. Most individuals have a missense variant in trans with a putative null allele. Four variants were re-current: p.(Cys192Tyr) in 10 families, p.(Gln320Argfs) in 5 families, p.(Ala377Thrfs) in 2 families, and p.(Met369Val) also in 2 families. Some functional studies also reported (Xenopus tropicalis). \nSources: Literature",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:11:17.562209+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5631",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: RAB1A was added\ngene: RAB1A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB1A were set to PMID: 37924809\nPhenotypes for gene: RAB1A were set to neurodevelopmental disorder MONDO:0700092, CASP2-related\nReview for gene: RAB1A was set to AMBER\nAdded comment: 4 families and 5 individuals, 2/5 have speech delay and 4/5 have motor delay. \r\nAnxiety in 3/5 and autism in 2/5. Microcephaly in only one individual, spastic paraplegia observed in 2 individuals from one family. \r\nIn 2 families variants were inherited from an affected parent. \nSources: Literature",
"entity_name": "RAB1A",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:10:57.008438+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "gene: SV2A was added\ngene: SV2A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SV2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SV2A were set to PMID: 37985816\nPhenotypes for gene: SV2A were set to Epilepsy, MONDO:0005027\nReview for gene: SV2A was set to AMBER\nAdded comment: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature",
"entity_name": "SV2A",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:10:32.120835+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.22",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SLC19A1 as Amber List (moderate evidence)",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:10:32.106164+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.22",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:10:30.511095+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37947183; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), CRELD1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:10:17.648982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1408",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SLC19A1 as Amber List (moderate evidence)",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:10:17.631230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1408",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:44.414145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1407",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DDX17 as Green List (high evidence)",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:44.401538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1407",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ddx17 has been classified as Green List (High Evidence).",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:42.601503+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.54",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SLC19A1 as Amber List (moderate evidence)",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:42.590152+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.54",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:30.876816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1406",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DDX17 as Green List (high evidence)",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:30.855678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1406",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ddx17 has been classified as Green List (High Evidence).",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:14.879956+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DDX17 as ready",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:09:14.854720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ddx17 has been removed from the panel.",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:53.888472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.168",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PKP2 as Green List (high evidence)",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:53.870738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.168",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pkp2 has been classified as Green List (High Evidence).",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:52.687007+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.53",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SLC19A1 as Amber List (moderate evidence)",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:52.668528+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.53",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:33.586583+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.52",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SLC19A1 as ready",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:33.569650+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.52",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: slc19a1 has been removed from the panel.",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:25.990913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1405",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: DDX17 was added\ngene: DDX17 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX17 were set to https://www.medrxiv.org/search/DDX17\nPhenotypes for gene: DDX17 were set to Neurodevelopmental disorder (MONDO#0700092), DDX17-related\nReview for gene: DDX17 was set to GREEN\nAdded comment: https://www.medrxiv.org/search/DDX17 (pre-print)\r\n11 patients with het de novo variants in DDX17 (5 NMD, 6 missense). Patient's phenotype included mild-moderate intellectual disability, delayed speech and language development and global developmental delay. 64% had dysmorphic facial features. Some patients also have gross and fine motor delay, generalized hypotonia, stereotypy, and evidence of autism spectrum disorder.\r\n\r\nKnockdown of Ddx17 in newborn mice showed impaired axon outgrowth and reduced axon outgrowth and branching was observed in primary cortical neurons in vitro. This result was replicated in Crispant Xenopus tadpoles, which had clear functional neural defects and showed an impaired neurobehavioral phenotype. \nSources: Literature",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:12.220025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5631",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DDX17 as Green List (high evidence)",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:12.212129+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5631",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ddx17 has been classified as Green List (High Evidence).",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:08:05.561926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1405",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "gene: SV2A was added\ngene: SV2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SV2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SV2A were set to PMID: 37985816\nPhenotypes for gene: SV2A were set to Epilepsy, MONDO:0005027\nReview for gene: SV2A was set to GREEN\nAdded comment: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD \r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members \r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature",
"entity_name": "SV2A",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:07:10.771124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5630",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DDX17 as Green List (high evidence)",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:07:10.756124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5630",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ddx17 has been classified as Green List (High Evidence).",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:06:54.948779+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DDX17 as ready",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:06:54.928874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ddx17 has been removed from the panel.",
"entity_name": "DDX17",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:05:07.018615+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.899",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RNF213 as ready",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:05:07.008843+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.899",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:03:59.527491+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.899",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNF213 as Green List (high evidence)",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:03:59.511816+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.899",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:03:30.710523+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.174",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:03:21.593925+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.898",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNF213 as Green List (high evidence)",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:03:21.582883+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.898",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:50.627787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MARK4 as ready",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:50.602124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mark4 has been classified as Red List (Low Evidence).",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:30.142372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MARK4 were changed from neurodevelopmental disorder (MONDO:0700092), MARK4-related to Neurodevelopmental disorder (MONDO:0700092), MARK4-related",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:19.330068+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.12",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RNF213 as ready",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:19.311751+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.12",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:11.425521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MARK4 as Red List (low evidence)",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:11.352781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1405",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mark4 has been classified as Red List (Low Evidence).",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:06.225524+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.12",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RNF213 as Green List (high evidence)",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:06.160997+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.12",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:05.517035+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MARK4 as Red List (low evidence)",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:02:05.478064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5629",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mark4 has been classified as Red List (Low Evidence).",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:56.066722+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.897",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RNF213 was added\ngene: RNF213 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF213 were set to 37924258\nPhenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585\nReview for gene: RNF213 was set to GREEN\nAdded comment: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals. \nSources: Literature",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:50.746597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1404",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MARK4 as Red List (low evidence)",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:50.725548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1404",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mark4 has been classified as Red List (Low Evidence).",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:31.748326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, Moyamoya phenomenon and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life.; to: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals.",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:26.825532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MARK4 as ready",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:26.744131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mark4 has been removed from the panel.",
"entity_name": "MARK4",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:25.329512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SLC19A1: Changed rating: AMBER",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:24.935692+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.11",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RNF213 was added\ngene: RNF213 was added to Stroke. Sources: Literature\nMode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNF213 were set to 37924258\nPhenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585\nReview for gene: RNF213 was set to GREEN\nAdded comment: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals. \nSources: Literature",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T13:01:21.736003+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.52",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SLC19A1: Changed rating: AMBER",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:59:29.337203+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.23",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.\r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).\r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.\r\nSources: Literature; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.\r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).\r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.\r\n\r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).\r\n\r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:59:14.046781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "edited their review of gene: ACBD6: Changed publications: 37951597, 36457943, 21937992, 35446914",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:59:12.943287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ3 as ready",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:59:12.932445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:58:50.743672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ3 as Amber List (moderate evidence)",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:58:50.730215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:58:07.682656+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.23",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30562116, PMID: 35059364, PMID: 38050058; Phenotypes: Dilated cardiomyopathy, hypoplastic left heart syndrome, hydrops fetalis, ventricular septal defect, left ventricular non-compaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:57:50.829504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1402",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "edited their review of gene: RNF213: Changed phenotypes: Moyamoya disease, MONDO:0016820, pediatric arterial ischemic stroke, MONDO:0018585",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:56:25.989929+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.4",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "edited their review of gene: PLA2G16: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:53.478413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1402",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SLC19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36517554, 36745868; Phenotypes: Combined immunodeficiency, SLC19A1-related MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SLC19A1",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:44.660415+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.70",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: WBP4 was added\ngene: WBP4 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WBP4 were set to PMID: 37425688\nPhenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related\nReview for gene: WBP4 was set to GREEN\nAdded comment: 11 individuals from 8 families, IUGR and postnatal growth restriction reported \nSources: Literature",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:37.314745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1402",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "edited their review of gene: PLA2G16: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:21.485658+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ3 as ready",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:21.477196+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:18.289326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.167",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome. \r\nSources: Literature; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome. \r\nSources: Literature",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:55:02.348021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.167",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. \r\nSources: Literature; to: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome. \r\nSources: Literature",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:54:59.971209+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "edited their review of gene: PLA2G16: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:54:26.612022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.167",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In cases, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. \nSources: Literature; to: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. \r\nSources: Literature",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:54:24.886263+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5628",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37919452; Phenotypes: Lipodystrophy (MONDO:0006573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:54:09.293153+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ3 as Amber List (moderate evidence)",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:54:09.282489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNJ3",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:53:45.870411+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.509",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: WBP4 was added\ngene: WBP4 was added to Callosome. Sources: Literature\nMode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WBP4 were set to PMID: 37425688\nPhenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related\nAdded comment: 8 individuals from 11 families, 3 had hypoplastic/thin corpus callosum \nSources: Literature",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:53:38.212576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.167",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: PKP2 was added\ngene: PKP2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKP2 were set to PMID: 30562116; PMID: 35059364; PMID: 38050058\nPhenotypes for gene: PKP2 were set to dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction\nPenetrance for gene: PKP2 were set to unknown\nReview for gene: PKP2 was set to GREEN\nAdded comment: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. \r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). \r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In cases, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. \nSources: Literature",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T12:53:28.740667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1402",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNJ3 was added\ngene: KCNJ3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KCNJ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ3 were set to PMID: 37963718\nPhenotypes for gene: KCNJ3 were set to Epilepsy (MONDO#0005027), KCNJ3-related\nReview for gene: KCNJ3 was set to AMBER\nAdded comment: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density.\r\n\r\nKcnj3-knockout mice display hyperactivity and decreased anxiety, while a knock-in mouse line displays spontaneous seizure-like activity. \nSources: Expert list",
"entity_name": "KCNJ3",
"entity_type": "gene"
}
]
}