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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=776",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=774",
"results": [
{
"created": "2022-09-01T18:02:40.792075+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:01:55.153743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGI3 as ready",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:01:55.145798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi3 has been classified as Green List (High Evidence).",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:01:44.493463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:01:21.721952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LGI3 as Green List (high evidence)",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:01:21.709056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi3 has been classified as Green List (High Evidence).",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:01:02.663775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:00:20.756098+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LGI3 as ready",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:00:20.747530+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi3 has been classified as Green List (High Evidence).",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:00:15.696335+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:59:36.935837+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LGI3 as Green List (high evidence)",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:59:36.928540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lgi3 has been classified as Green List (High Evidence).",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:59:08.017622+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:58.976624+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS15 as ready",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:58.963494+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts15 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:53.310452+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS15 as ready",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:53.285683+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts15 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:33.571779+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS15 as Green List (high evidence)",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:33.559855+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts15 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:56:19.797870+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS15 was added\ngene: ADAMTS15 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS15 were set to 35962790\nPhenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related\nReview for gene: ADAMTS15 was set to GREEN\nAdded comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). \nSources: Literature",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:37:54.645854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: TMEM147 was added\ngene: TMEM147 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM147 were set to PMID: 36044892\nPhenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related\nReview for gene: TMEM147 was set to GREEN\nAdded comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction. \nSources: Literature",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:35:38.999153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: TMEM147 was added\ngene: TMEM147 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM147 were set to PMID: 36044892\nPhenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related\nReview for gene: TMEM147 was set to GREEN\nAdded comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction. \nSources: Literature",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:31:20.604737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder, MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:26:40.595109+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.163",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: SAT1 was added\ngene: SAT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: SAT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SAT1 were set to 25977808\nPhenotypes for gene: SAT1 were set to Systemic lupus erythematosus, MONDO:0007915, SAT1-related\nPenetrance for gene: SAT1 were set to unknown\nReview for gene: SAT1 was set to AMBER\ngene: SAT1 was marked as current diagnostic\nAdded comment: - Two SAT1 loss of function variants reported in four SLE males across two American-African families, inherited from their unaffected mothers\r\n- Using a minigene assay, the p.(Asp40Tyr) variant was shown to result in aberrant splicing\r\n- Hemizygous knock-in male mice and homozygous female mice carrying the p.(Glu92Leufs*6) variant spontaneously developed lupus-like autoimmune disease, including splenomegaly, glomerular infiltration of leukocytes, proteinuria and elevated type I interferon scores \nSources: Literature",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:23:52.460600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS15 as ready",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:23:52.449093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts15 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:23:00.726520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS15 as Green List (high evidence)",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:23:00.718750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts15 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:22:52.243603+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS15 as Green List (high evidence)",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:22:52.235843+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts15 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS15",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:21:50.928878+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPRIN1 as ready",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:21:50.917271+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Green List (High Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:21:21.350370+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPRIN1 as Green List (high evidence)",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:21:21.339076+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Green List (High Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:20:58.510325+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UCHL1 as ready",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:20:58.500967+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Green List (High Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:19:48.949330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPRIN1 as ready",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:19:48.932344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Green List (High Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:19:22.379189+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:18:56.076650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPRIN1 as Green List (high evidence)",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:18:56.065013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Green List (High Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:16:04.987717+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1649",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: COX11 was added\ngene: COX11 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX11 were set to 36030551\nPhenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related\nReview for gene: COX11 was set to GREEN\ngene: COX11 was marked as current diagnostic\nAdded comment: PMID: 36030551\r\n-\tBiallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. \r\n-\tFunctional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.\r\n-\tRNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. \nSources: Literature",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:15:06.813899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: COX11 was added\ngene: COX11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX11 were set to 36030551\nPhenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related\nReview for gene: COX11 was set to GREEN\ngene: COX11 was marked as current diagnostic\nAdded comment: PMID: 36030551\r\n-\tBiallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. \r\n-\tFunctional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.\r\n-\tRNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. \nSources: Literature",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:11:46.491905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.287",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CBLB as ready",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:11:46.470095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.287",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cblb has been classified as Green List (High Evidence).",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:11:16.403963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.287",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CBLB as Green List (high evidence)",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:11:16.396549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.287",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cblb has been classified as Green List (High Evidence).",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:10:59.505084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.286",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CBLB was added\ngene: CBLB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBLB were set to 36006710\nPhenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179\nReview for gene: CBLB was set to GREEN\nAdded comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking. \nSources: Literature",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:10:09.420455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TYMS was added\ngene: TYMS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TYMS was set to Other\nPublications for gene: TYMS were set to 35931051\nPhenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780\nReview for gene: TYMS was set to RED\nAdded comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant.\r\n\r\nThe other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.\r\n\r\nThe TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.\r\n\r\nImmunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.\r\n\r\nLymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1. \nSources: Literature",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:09:24.733851+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.153",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CBLB as ready",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:09:24.725545+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.153",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cblb has been classified as Green List (High Evidence).",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:09:13.315073+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.153",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CBLB as Green List (high evidence)",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:09:13.307768+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.153",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: cblb has been classified as Green List (High Evidence).",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:08:28.571066+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.152",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: CBLB was added\ngene: CBLB was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBLB were set to 36006710\nPhenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179\nReview for gene: CBLB was set to GREEN\nAdded comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking. \nSources: Literature",
"entity_name": "CBLB",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:08:25.368541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 34196201, 35359234; Phenotypes: CEP104 Neurodevelopmental disorder, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:06:23.367730+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.151",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 35902954\nPhenotypes for gene: NBAS were set to Hemophagocytic lymphohistiocytosis (HLH)\nReview for gene: NBAS was set to GREEN\ngene: NBAS was marked as current diagnostic\nAdded comment: 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus. \nSources: Literature",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:06:16.382478+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1649",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: TMEM163 was added\ngene: TMEM163 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM163 were set to PMID: 35953447\nPhenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy\nReview for gene: TMEM163 was set to GREEN\nAdded comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.\r\n\r\nAll have global developmental delay, three of them have seizures. \nSources: Literature",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:06:06.550873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:05:32.671089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "changed review comment from: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2). \r\nIn gnomAD, there are very few LOF variants. (LOF shows pLI = 1).\r\nThe group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.; to: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2. \r\nIn gnomAD, there are very few LOF variants. (LOF shows pLI = 1).\r\nThe group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:05:27.395174+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:04:14.756781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "reviewed gene: HNRNPH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35989590; Phenotypes: early onset high myopia, blindness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:04:01.479019+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.18",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: TYMS was added\ngene: TYMS was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: TYMS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TYMS were set to 35931051\nPhenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780\nReview for gene: TYMS was set to RED\nAdded comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant. \r\n\r\nThe other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.\r\n\r\nThe TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.\r\n\r\nImmunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.\r\n\r\nLymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1. \nSources: Literature",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:03:00.674218+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPRIN1 as ready",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:03:00.666063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Green List (High Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:02:14.225614+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: TMEM163 was added\ngene: TMEM163 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM163 were set to PMID: 35953447\nPhenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy\nReview for gene: TMEM163 was set to GREEN\nAdded comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.\r\n\r\nAll have global developmental delay, three of them have seizures. \nSources: Literature",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:02:01.931086+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPRIN1 as Green List (high evidence)",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:02:01.918549+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Green List (High Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:01:20.498329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.\r\n\r\nAll have global developmental delay, three of them have seizures and two have ID. \nSources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.\r\n\r\nAll have global developmental delay, three of them have seizures. \r\nSources: Literature",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:01:12.910620+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.275",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. \r\n\r\nAll have global developmental delay, three of them have seizures and two have ID.\r\n\r\nSources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. \r\n\r\nAll have global developmental delay, three of them have seizures.\r\n\r\nSources: Literature",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:01:10.676306+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MET as ready",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:01:10.663161+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:01:02.231886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MET were changed from Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:00:42.391339+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MET as Amber List (moderate evidence)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:00:42.372445+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:00:41.225352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MET were set to ",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:00:05.037775+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MET as Amber List (moderate evidence)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:00:05.023844+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: met has been classified as Amber List (Moderate Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T17:00:01.735355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 30777867:\r\nFour-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; to: PMID 30777867:\r\nFour-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.\r\n\r\nAMBER for this association",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:59:47.090949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MET: Added comment: PMID 30777867:\r\nFour-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; Changed publications: 30777867",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:59:46.911467+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2A were set to 30544257",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:59:24.625134+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:58:32.725461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.283",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: TMEM163 was added\ngene: TMEM163 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM163 were set to PMID: 35953447\nPhenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy\nReview for gene: TMEM163 was set to GREEN\nAdded comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.\r\n\r\nAll have global developmental delay, three of them have seizures and two have ID. \nSources: Literature",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:58:08.690393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.283",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: LGI3 was added\ngene: LGI3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LGI3 were set to PMID: 35948005\nPhenotypes for gene: LGI3 were set to Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi\nReview for gene: LGI3 was set to GREEN\nAdded comment: Sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3.\r\nLgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons. \nSources: Literature",
"entity_name": "LGI3",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:57:06.435549+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1649",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CAPRIN1 were set to 35979925\nPhenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092\nReview for gene: CAPRIN1 was set to GREEN\ngene: CAPRIN1 was marked as current diagnostic\nAdded comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals).\r\n\r\nAll of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity. \nSources: Literature",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:56:54.189078+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH1 were changed from Adams-Oliver syndrome 5 (MIM#616028) to Adams-Oliver syndrome 5 (MIM#616028); Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:56:34.338222+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.275",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. \r\nSources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. \r\n\r\nAll have global developmental delay, three of them have seizures and two have ID.\r\n\r\nSources: Literature",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:55:51.985332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH1 were set to 25963545; 25132448",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:54:49.982208+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.26",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: 35951005; Phenotypes: Non-acquired combined pituitary hormone deficiency MONDO:0018762; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:54:21.357177+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2A were set to 30544257",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:53:33.945398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: NOTCH1 was changed from to Other",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:53:21.179528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.280",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: BUD13 as ready",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:53:21.171283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.280",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: bud13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:53:13.197372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.280",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: BUD13 as Amber List (moderate evidence)",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:53:13.189728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.280",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: bud13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:53:04.267894+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:52:40.991457+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.7",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. \r\n\r\nIndividuals from two Algerian families. \nSources: Literature; to: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. \r\n\r\nIndividuals from only two Algerian families. \r\nSources: Literature",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:52:38.686888+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:52:28.655963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.279",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: BUD13 was added\ngene: BUD13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BUD13 were set to 35670808\nPhenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573\nReview for gene: BUD13 was set to AMBER\nAdded comment: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from only two Algerian families. \nSources: Literature",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:52:05.834663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2022-09-01T16:51:34.814535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2A were set to 30544257",
"entity_name": "GRIN2A",
"entity_type": "gene"
}
]
}