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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=646",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=644",
"results": [
{
"created": "2023-01-05T14:55:16.660957+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1824",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: BSN was added\ngene: BSN was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSN were set to Epilepsy MONDO:0005027\nReview for gene: BSN was set to GREEN\nAdded comment: Ye et al 2022, Neurogenetics identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development. \r\n\r\nIn addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected. \r\n\r\nAssociation between biallelic variants and epilepsy stronger than for monoallelic. \nSources: Literature",
"entity_name": "BSN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:55:11.233558+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.189",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: COBLL1 was added\ngene: COBLL1 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: COBLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COBLL1 were set to 36493769\nPhenotypes for gene: COBLL1 were set to Cleft lip/palate MONDO:0016044, COBLL1-related\nReview for gene: COBLL1 was set to AMBER\ngene: COBLL1 was marked as current diagnostic\nAdded comment: PMID:36493769 identified the same multi-exon intragenic deletion by high-res microarray in 3 individuals with non-syndromic cleft lip/palate. The deletion is absent from gnomAD. Inheritance information was only available for 1 individual, in whom it was inherited from an unaffected father.\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \nSources: Literature",
"entity_name": "COBLL1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:53:51.040302+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIC1 as ready",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:53:51.026832+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Green List (High Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:53:41.835896+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1824",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: EIF4A2 was added\ngene: EIF4A2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EIF4A2 were set to PMID: 36528028\nPhenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related\nMode of pathogenicity for gene: EIF4A2 was set to Other\nReview for gene: EIF4A2 was set to GREEN\nAdded comment: PMID: 36528028\r\n- EIF4A2 variants were observed in 15 individuals from 14 families. Affected individuals had a range of symptoms including global developmental delay (9/15), ID (7/15), epilepsy (11/15) and structural brain alterations (10/15). Monoallelic and biallelic variants were reported and functional studies showed both LOF and GOF disease mechanisms. \nSources: Literature",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:53:26.905475+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.2",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "edited their review of gene: OXGR1: Changed phenotypes: Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related, MONDO:0001567, OXGR1-related",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:53:13.179623+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIC1 as Green List (high evidence)",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:53:13.167027+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ric1 has been classified as Green List (High Evidence).",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:52:00.545777+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.219",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36529819; Phenotypes: Li-Fraumeni syndrome 2 (MIM#609265), {Breast cancer, susceptibility to} (MIM#114480), {Colorectal cancer, susceptibility to} (MIM#114500), {Prostate cancer, familial, susceptibility to} (MIM#176807); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CHEK2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:51:02.635110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.588",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "edited their review of gene: OXGR1: Changed phenotypes: Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related, MONDO:0001567, OXGR1-related",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:50:42.113174+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.139",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: COQ7 was added\ngene: COQ7 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ7 were set to PMID: 36454683\nPhenotypes for gene: COQ7 were set to Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894)\nReview for gene: COQ7 was set to AMBER\nAdded comment: PMID: 36454683 - 1 family (3 sibs) with a homozygous start-loss. Functional studies showed 85% loss of protein of the main isoform 1 (NM_016138) in patient fibroblasts and accumulation of protein substrate. Patients had a motor neuropathy \nSources: Literature",
"entity_name": "COQ7",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:50:12.352144+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ARHGAP35 as ready",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:50:12.337701+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:49:44.933645+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.188",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RIC1 was added\ngene: RIC1 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: RIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RIC1 were set to 36493769\nPhenotypes for gene: RIC1 were set to Cleft lip/palate MONDO:0016044, RIC1-related\nReview for gene: RIC1 was set to GREEN\ngene: RIC1 was marked as current diagnostic\nAdded comment: PMID:36493769 identified an intragenic deletion by high-res microarray of exons 1-2 in 3 individuals with non-syndromic cleft lip/palate. This deleton is not present in gnomAD. Inheritance information was available in 2 individuals; one was de novo, the other inherited from an affected mother. Note that the gene is not LOF constrained in gnomAD.\r\n\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \nSources: Literature",
"entity_name": "RIC1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:49:11.265222+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Green List (high evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:49:11.253022+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.31",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:48:41.620615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.588",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PHLDB1 as ready",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:48:41.598110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.588",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: phldb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:48:28.961316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.588",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PHLDB1 as Amber List (moderate evidence)",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:48:28.943822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.588",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: phldb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:48:07.714077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.587",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PHLDB1 was added\ngene: PHLDB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHLDB1 were set to 36543534\nPhenotypes for gene: PHLDB1 were set to osteogenesis imperfecta, MONDO:0019019\nReview for gene: PHLDB1 was set to AMBER\nAdded comment: 5 children from two consanguineous families with recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment. \r\n\r\nTwo independent nonsense variants were identified in the families, NM_001144758.3:c.2392dup (p.Leu798Profs*4) and NM_001144758.3:c.2690_2693del (p.Leu897Glnfs*24). RT-PCR and western blot analysis confirmed loss of transcript and protein product, respectively, but no further functional data provided. \nSources: Literature",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:47:09.600857+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.30",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: ARHGAP35 was added\ngene: ARHGAP35 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP35 were set to PMID: 36450800\nPhenotypes for gene: ARHGAP35 were set to Developmental defect of the eye (MONDO:0020145), ARHGAP35-related\nAdded comment: PMID: 36450800\r\n- ARHGAP35 variants were found in five individuals from four families with human developmental eye phenotypes. The affected individuals had anophthalmia, microphthalmia, coloboma and/or anterior segment dysgenesis disorders, together with variable non-ocular phenotypes in some families including renal, neurological, or cardiac anomalies. \nSources: Literature",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:47:06.887125+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.88",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PHLDB1 as ready",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:47:06.867788+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.88",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: phldb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:58.561894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXGR1 as ready",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:58.549681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxgr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:45.971306+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.88",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: PHLDB1 as Amber List (moderate evidence)",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:45.957755+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.88",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: phldb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHLDB1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:43.571707+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXGR1 as Amber List (moderate evidence)",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:43.555478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxgr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:46:16.489331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.585",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CDK16 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO#0700092) CDK16-related",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:45:50.129631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.584",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Publications for gene: CDK16 were set to 25644381",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:45:36.666399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.583",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: OXGR1 was added\ngene: OXGR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OXGR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OXGR1 were set to PMID:35671463\nPhenotypes for gene: OXGR1 were set to Nephrolithiasis/nephrocalcinosis MONDO:0008171, OXGR1-related\nPenetrance for gene: OXGR1 were set to unknown\nReview for gene: OXGR1 was set to AMBER\nAdded comment: Candidate disease gene for human calcium oxalate nephrolithiasis.\r\n\r\nPerformed exome sequencing and directed sequencing of the OXGR1 locus in a worldwide nephrolithiasis/nephrocalcinosis (NL/NC) cohort, and putatively deleterious rare OXGR1 variants were functionally characterised.\r\n\r\nA heterozygous OXGR1 missense variant (c.371T>G; p.Leu124Arg) co-segregated with calcium oxalate NL and/or NC disease in an autosomal dominant inheritance pattern within a multi-generational family with five affected individuals.\r\n\r\nInterrogation of the OXGR1 locus in 1,107 additional NL/NC families identified five additional deleterious dominant variants in five families with calcium oxalate NL/NC. Rare, potentially deleterious OXGR1 variants were enriched in NL/NC subjects relative to ExAC controls. Four missense variants and one frameshift variant. \r\n\r\nFour of five NL/NC-associated missense variants revealed impaired AKG-dependent calcium ion uptake, demonstrating loss of function. \r\n\r\nRare, dominant loss-of-function OXGR1 variants are associated with recurrent calcium oxalate NL/NC disease. Six potentially deleterious variants were identified in six of 1,108 NL/NC families (0.54%). \r\n\r\nLimitations: only probands were able to be recruited for four of six families. In the future, it will be important to determine whether any of the affected family members share the identified OXGR1 variant. They also observe OXGR1 variants in 0.16% of ExAC subjects (selected on the basis of the absence of paediatric disease). \nSources: Literature",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:45:12.208677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.583",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: CDK16: Rating: GREEN; Mode of pathogenicity: None; Publications: 36323681, 31981491, 25644381; Phenotypes: Neurodevelopmental disorder (MONDO#0700092) CDK16-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:44:40.401289+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF38 as ready",
"entity_name": "ARHGEF38",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:44:40.389634+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGEF38",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:44:34.847927+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGEF38 as Amber List (moderate evidence)",
"entity_name": "ARHGEF38",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:44:34.835238+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef38 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGEF38",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:43:59.786356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.583",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CDK16 as Green List (high evidence)",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:43:59.774144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.583",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cdk16 has been classified as Green List (High Evidence).",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:43:23.234094+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5143",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CDK16 were changed from Neurodevelopmental disorder (MONDO#0700092) CDK16-related to Neurodevelopmental disorder (MONDO#0700092) CDK16-related",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:53.240186+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5142",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Phenotypes for gene: CDK16 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO#0700092) CDK16-related",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:52.211550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.582",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CCIN as ready",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:52.198816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.582",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ccin has been classified as Green List (High Evidence).",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:49.265668+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.187",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ARHGEF38 was added\ngene: ARHGEF38 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: ARHGEF38 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ARHGEF38 were set to 36493769\nPhenotypes for gene: ARHGEF38 were set to Cleft lip/palate MONDO:0016044, ARHGEF38-related\nReview for gene: ARHGEF38 was set to AMBER\ngene: ARHGEF38 was marked as current diagnostic\nAdded comment: PMID:36493769 identified an intragenic deletion by high-res microarray of the same exon (exon 3) in 4 individuals with non-syndromic cleft lip/palate. Deletion of exon 3 is present in 6 individuals in gnomAD. Inheritance information was not available.\r\n\r\nKnockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos. \nSources: Literature",
"entity_name": "ARHGEF38",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:41.855328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.582",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CCIN were changed from Teratozoospermia to male infertility with teratozoospermia due to single gene mutation, MONDO:0018394",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:17.212572+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXGR1 as ready",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:17.197380+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxgr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:13.863189+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OXGR1 were changed from Nephrolithiasis/nephrocalcinosis to Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:02.358527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.581",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CCIN as Green List (high evidence)",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:42:02.322385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.581",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ccin has been classified as Green List (High Evidence).",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:41:48.627050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5141",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CDK16 as Green List (high evidence)",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:41:48.613772+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5141",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cdk16 has been classified as Green List (High Evidence).",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:41:37.731376+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXGR1 as Amber List (moderate evidence)",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:41:37.718850+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxgr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:39:38.479016+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.54",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: NFU1 as ready",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:39:38.465062+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.54",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nfu1 has been classified as Green List (High Evidence).",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:39:35.914302+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: OXGR1 was added\ngene: OXGR1 was added to Renal Tubulopathies and related disorders. Sources: Literature\nMode of inheritance for gene: OXGR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OXGR1 were set to PMID:35671463\nPhenotypes for gene: OXGR1 were set to Nephrolithiasis/nephrocalcinosis\nPenetrance for gene: OXGR1 were set to unknown\nReview for gene: OXGR1 was set to AMBER\nAdded comment: Candidate disease gene for human calcium oxalate nephrolithiasis.\r\n\r\nPerformed exome sequencing and directed sequencing of the OXGR1 locus in a worldwide nephrolithiasis/nephrocalcinosis (NL/NC) cohort, and putatively deleterious rare OXGR1 variants were functionally characterised.\r\n\r\nA heterozygous OXGR1 missense variant (c.371T>G; p.Leu124Arg) co-segregated with calcium oxalate NL and/or NC disease in an autosomal dominant inheritance pattern within a multi-generational family with five affected individuals.\r\n\r\nInterrogation of the OXGR1 locus in 1,107 additional NL/NC families identified five additional deleterious dominant variants in five families with calcium oxalate NL/NC. Rare, potentially deleterious OXGR1 variants were enriched in NL/NC subjects relative to ExAC controls. Four missense variants and one frameshift variant. \r\n\r\nFour of five NL/NC-associated missense variants revealed impaired AKG-dependent calcium ion uptake, demonstrating loss of function. \r\n\r\nRare, dominant loss-of-function OXGR1 variants are associated with recurrent calcium oxalate NL/NC disease. Six potentially deleterious variants were identified in six of 1,108 NL/NC families (0.54%). \r\n\r\nLimitations: only probands were able to be recruited for four of six families. In the future, it will be important to determine whether any of the affected family members share the identified OXGR1 variant. They also observe OXGR1 variants in 0.16% of ExAC subjects (selected on the basis of the absence of paediatric disease). \nSources: Literature",
"entity_name": "OXGR1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:39:34.092383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5140",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:39:11.109291+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF4A2 as Green List (high evidence)",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:39:11.089084+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a2 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:46.693775+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:38.702486+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1824",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRA2B as Green List (high evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:38.689503+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1824",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:29.785537+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.54",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NFU1 as Green List (high evidence)",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:29.768938+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.54",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nfu1 has been classified as Green List (High Evidence).",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:08.555883+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF4A2 as Green List (high evidence)",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:08.542013+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a2 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:03.655739+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.53",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NFU1 as Green List (high evidence)",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:38:03.636176+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.53",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nfu1 has been classified as Green List (High Evidence).",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:57.350244+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.185",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:51.430802+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1824",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRA2B as Green List (high evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:51.414724+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1824",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:17.408675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TRA2B as ready",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:17.338619+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:13.017069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.580",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: CCIN was added\ngene: CCIN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCIN were set to 36546111; 36527329\nPhenotypes for gene: CCIN were set to Teratozoospermia\nReview for gene: CCIN was set to GREEN\ngene: CCIN was marked as current diagnostic\nAdded comment: Two papers with three unrelated patients with teratozoospermia:\r\n\r\nPMID: 36546111\r\n- Two families reported: One with homozygous missense (fam is consanguineous) and another with compound heterozygous missense + nonsense variants, patients suffering from teratozoospermia.\r\n- Homozygous CcinH42L/H42L and compound heterozygous CcinR432W/C447* knock-in mice generated. Spermatozoa from homozygous male mice exhibited abnormalities of sperm head shape revealed by Diff-Quick staining. When mated with WT mice, both homozygous CcinH42L/H42L and compound heterozygous CcinR432W/C447* male mice were infertile, whereas the mutant female mice could generate offspring and displayed no defects in fertility.\r\n\r\nPMID: 36527329\r\n- One consanguineous family reported: homozygous missense, with asthenoteratozoospermia.\r\n- Transfected HEK cells showed reduced CCIN protein level. \nSources: Literature",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:05.708793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.580",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TRA2B as ready",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:37:05.640999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.580",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:57.408555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.580",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:52.536758+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.184",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TRA2B as ready",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:52.522993+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.184",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:48.736619+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4A2 as ready",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:48.722132+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a2 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:48.130560+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1823",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TRA2B as ready",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:48.113647+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1823",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Red List (Low Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:25.221585+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Total of 3 families with ID 1 with ASD.\r\nPMID 36323681:\r\nIdentified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. \r\nA missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance.\r\n\r\nPMID 31981491:\r\nIn addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD.\r\n\r\nPMID 25644381:\r\nSingle family described in this manuscript describing multiple candidate genes for XLID.; to: 3 families with ID 1 with ASD.\r\nPMID 36323681:\r\nIdentified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. \r\nA missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance.\r\n\r\nPMID 31981491:\r\nIn addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD.\r\n\r\nPMID 25644381:\r\nSingle family described in this manuscript describing multiple candidate genes for XLID.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:36:04.033637+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Total of 3 families with ID i with ASD.\r\nPMID 36323681:\r\nIdentified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. \r\nA missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance.\r\n\r\nPMID 31981491:\r\nIn addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD.\r\n\r\nPMID 25644381:\r\nSingle family described in this manuscript describing multiple candidate genes for XLID.; to: Total of 3 families with ID 1 with ASD.\r\nPMID 36323681:\r\nIdentified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. \r\nA missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance.\r\n\r\nPMID 31981491:\r\nIn addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD.\r\n\r\nPMID 25644381:\r\nSingle family described in this manuscript describing multiple candidate genes for XLID.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:35:59.608802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF4A2 as Green List (high evidence)",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:35:59.255076+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4a2 has been classified as Green List (High Evidence).",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:35:29.831697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.579",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRA2B as Green List (high evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:35:29.815274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.579",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:34:58.781652+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.184",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRA2B as Green List (high evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:34:58.770214+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.184",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:34:46.278234+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5138",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "commented on gene: CDK16: Total of 3 families with ID i with ASD.\r\nPMID 36323681:\r\nIdentified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. \r\nA missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance.\r\n\r\nPMID 31981491:\r\nIn addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD.\r\n\r\nPMID 25644381:\r\nSingle family described in this manuscript describing multiple candidate genes for XLID.",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:34:39.309675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRA2B as Green List (high evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:34:39.272257+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:33:57.388432+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5138",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CDK16: Rating: GREEN; Mode of pathogenicity: None; Publications: 36323681, 31981491, 25644381; Phenotypes: Neurodevelopmental disorder (MONDO#0700092) CDK16-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CDK16",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:33:39.602129+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TRA2B as Green List (high evidence)",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:33:39.587458+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5138",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tra2b has been classified as Green List (High Evidence).",
"entity_name": "TRA2B",
"entity_type": "gene"
},
{
"created": "2023-01-05T14:32:24.409732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.82",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36584339; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TGFBR1",
"entity_type": "gene"
}
]
}