{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=777","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=775","results":[{"created":"2022-09-01T16:51:19.794752+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 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. \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\nSources: Literature","entity_name":"TMEM163","entity_type":"gene"},{"created":"2022-09-01T16:51:10.567619+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:51:00.113844+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.275","user_name":"Teresa Zhao","item_type":"entity","text":"gene: TMEM163 was added\ngene: TMEM163 was added to Leukodystrophy - paediatric. 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 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. \nSources: Literature","entity_name":"TMEM163","entity_type":"gene"},{"created":"2022-09-01T16:50:34.983968+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.277","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":"2022-09-01T16:50:09.009623+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: BUD13 as Amber List (moderate evidence)","entity_name":"BUD13","entity_type":"gene"},{"created":"2022-09-01T16:50:08.988144+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","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":"2022-09-01T16:50:08.911988+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905; 35986737","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:49:52.377886+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: BUD13 as ready","entity_name":"BUD13","entity_type":"gene"},{"created":"2022-09-01T16:49:52.367219+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","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":"2022-09-01T16:49:47.604721+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to ","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:49:37.958093+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: BUD13 as Amber List (moderate evidence)","entity_name":"BUD13","entity_type":"gene"},{"created":"2022-09-01T16:49:37.949698+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.7","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":"2022-09-01T16:49:17.138109+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UCHL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:49:17.111910+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:49:15.291290+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.275","user_name":"Chern Lim","item_type":"entity","text":"gene: NOTCH1 was added\ngene: NOTCH1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH1 were set to 35947102\nPhenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related\nMode of pathogenicity for gene: NOTCH1 was set to Other\nReview for gene: NOTCH1 was set to GREEN\ngene: NOTCH1 was marked as current diagnostic\nAdded comment: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.\r\n- Missense and small inframe insertion variants in the negative regulatory region. \nSources: Literature","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:49:04.894604+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35977808; Phenotypes: Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"SAT1","entity_type":"gene"},{"created":"2022-09-01T16:48:32.234238+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:48:31.903332+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.6","user_name":"Alison Yeung","item_type":"entity","text":"gene: BUD13 was added\ngene: BUD13 was added to Lipodystrophy_Lipoatrophy. 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 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","entity_name":"BUD13","entity_type":"gene"},{"created":"2022-09-01T16:48:22.086451+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.497","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:47:47.372935+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:47:13.275496+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.495","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:47:04.775020+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UCHL1 as ready","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:47:04.765574+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.134","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":"2022-09-01T16:46:59.383162+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UCHL1 as Green List (high evidence)","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:46:59.373698+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.134","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":"2022-09-01T16:46:32.212001+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.47","user_name":"Chern Lim","item_type":"entity","text":"gene: NOTCH1 was added\ngene: NOTCH1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH1 were set to 35947102\nPhenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related\nMode of pathogenicity for gene: NOTCH1 was set to Other\nReview for gene: NOTCH1 was set to GREEN\ngene: NOTCH1 was marked as current diagnostic\nAdded comment: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.\r\n- Missense and small inframe insertion variants in the negative regulatory region. \nSources: Literature","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:45:41.507684+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UCHL1 was added\ngene: UCHL1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UCHL1 were set to 35986737\nPhenotypes for gene: UCHL1 were set to Neurodegenerative disease, MONDO:0005559, UCHL1-related\nReview for gene: UCHL1 was set to GREEN\nAdded comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17). \nSources: Literature","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:45:12.730000+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Missense and small inframe insertion variants in the negative regulatory region. \nSources: Literature; to: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.\r\n- Missense and small inframe insertion variants in the negative regulatory region.\r\n","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:45:03.950722+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Missense and small inframe insertion variants in the negative regulatory region.; to: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals.\r\n- Missense and small inframe insertion variants in the negative regulatory region.\r\n","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:44:14.444770+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:44:02.910213+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:43:47.839119+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:43:33.199168+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:41:48.824318+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:41:40.114526+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","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":"2022-09-01T16:41:13.018981+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:40:41.012160+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007905, 23359680, 11555633, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:40:32.686800+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491 to Spastic paraplegia 79, autosomal recessive, MIM#615491; Neurodegenerative disease, MONDO:0005559, UCHL1-related","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:40:15.522257+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to ","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:39:47.297269+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.350","user_name":"Naomi Baker","item_type":"entity","text":"changed review comment from: 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: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,\r\nmissing teeth, or arched palate) (4/5). \nSources: Literature; to: 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,\r\nmissing teeth, or arched palate) (4/5). \r\nSources: Literature","entity_name":"ADAMTS15","entity_type":"gene"},{"created":"2022-09-01T16:39:47.048980+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:39:32.282394+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 28007905, 23359680, 11555633, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2022-09-01T16:39:18.910969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Naomi Baker","item_type":"entity","text":"changed review comment from: 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: ontractures 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; to: 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). \r\nSources: Literature","entity_name":"ADAMTS15","entity_type":"gene"},{"created":"2022-09-01T16:37:58.899861+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","user_name":"Chern Lim","item_type":"entity","text":"gene: NOTCH1 was added\ngene: NOTCH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH1 were set to 35947102\nPhenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related\nMode of pathogenicity for gene: NOTCH1 was set to Other\nReview for gene: NOTCH1 was set to GREEN\ngene: NOTCH1 was marked as current diagnostic\nAdded comment: PMID: 35947102:\r\n- Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. \r\n- Missense and small inframe insertion variants in the negative regulatory region. \nSources: Literature","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:37:46.492748+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.3","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to Diamond Blackfan anaemia. Sources: Expert list\nMode of inheritance for gene: GATA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA1 were set to PMID: 36029112\nPhenotypes for gene: GATA1 were set to Diamond-Blackfan anemia (MONDO:0015253)\nReview for gene: GATA1 was set to GREEN\nAdded comment: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype. \nSources: Expert list","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-09-01T16:37:40.972588+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: Six 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; to: 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. \r\nSources: Literature","entity_name":"LGI3","entity_type":"gene"},{"created":"2022-09-01T16:37:36.094036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Naomi Baker","item_type":"entity","text":"gene: ADAMTS15 was added\ngene: ADAMTS15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS15 were set to PMID: 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: ontractures 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":"2022-09-01T16:37:31.700674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Chern Lim","item_type":"entity","text":"edited their review of gene: NOTCH1: Changed phenotypes: Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:36:37.544771+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","user_name":"Melanie Marty","item_type":"entity","text":"gene: LGI3 was added\ngene: LGI3 was added to Intellectual disability syndromic and non-syndromic. 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: Six 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":"2022-09-01T16:35:35.776861+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-09-01T16:34:53.945807+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1646","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-09-01T16:34:38.955602+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.350","user_name":"Naomi Baker","item_type":"entity","text":"gene: ADAMTS15 was added\ngene: ADAMTS15 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS15 were set to PMID: 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: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding,\r\nmissing teeth, or arched palate) (4/5). \nSources: Literature","entity_name":"ADAMTS15","entity_type":"gene"},{"created":"2022-09-01T16:30:51.479383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Mendeliome. 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":"2022-09-01T16:29:41.132448+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4912","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Intellectual disability syndromic and non-syndromic. 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":"2022-09-01T16:29:15.419871+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.350","user_name":"Lucy Spencer","item_type":"entity","text":"gene: MET was added\ngene: MET was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MET were set to 30777867\nPhenotypes for gene: MET were set to ?Arthrogryposis, distal, type 11 (MIM#620019), AD\nReview for gene: MET was set to AMBER\nAdded comment: Four-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.\r\n\r\nFunctional 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.\r\n\r\nPhenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination. \nSources: Literature","entity_name":"MET","entity_type":"gene"},{"created":"2022-09-01T16:28:57.807505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.276","user_name":"Alison Yeung","item_type":"entity","text":"gene: LHX8 was added\ngene: LHX8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LHX8 were set to 36029299\nPhenotypes for gene: LHX8 were set to Inherited premature ovarian failure, MONDO:0019852, LHX8-related\nReview for gene: LHX8 was set to GREEN\nAdded comment: Heterozygous LOF variants identified in 6 families with premature ovarian failure due to oocyte maturation arrest. \nSources: Literature","entity_name":"LHX8","entity_type":"gene"},{"created":"2022-09-01T16:27:08.517720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.275","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35947102; Phenotypes: leukoencephalopathy and calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-09-01T16:26:37.533574+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.306","user_name":"Alison Yeung","item_type":"entity","text":"Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904","entity_name":"LHX8","entity_type":"gene"},{"created":"2022-09-01T16:26:18.054806+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.305","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: LHX8 as Green List (high evidence)","entity_name":"LHX8","entity_type":"gene"},{"created":"2022-09-01T16:26:18.041279+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.305","user_name":"Alison Yeung","item_type":"entity","text":"Gene: lhx8 has been classified as Green List (High Evidence).","entity_name":"LHX8","entity_type":"gene"},{"created":"2022-09-01T16:26:05.769018+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.304","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: LHX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 36029299; Phenotypes: Inherited premature ovarian failure, MONDO:0019852, LHX8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LHX8","entity_type":"gene"},{"created":"2022-09-01T16:25:54.594867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.275","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GRIN2A","entity_type":"gene"},{"created":"2022-09-01T16:25:47.755509+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.275","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:25:28.532123+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEF1 were set to PMID: 32022899","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:25:05.958924+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.274","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEF1 were set to 32022899","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:24:41.489142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.273","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:24:21.992346+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:24:15.866278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.272","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEF1 as Green List (high evidence)","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:24:15.857936+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:23:57.538226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:23:49.512583+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:23:38.615248+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:30.901554+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEF1 as Green List (high evidence)","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:30.888816+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:29.761464+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEF1 as Green List (high evidence)","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:29.752249+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:20.976335+10:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:07.447352+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEF1 as Green List (high evidence)","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:07.434383+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:06.758182+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEF1 as ready","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:22:06.745321+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Red List (Low Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:21:30.306195+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEF1 was added\ngene: LEF1 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LEF1 were set to 35583550\nPhenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related\nReview for gene: LEF1 was set to GREEN\nAdded comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype. \nSources: Literature","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:21:11.907048+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEF1 as ready","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:21:11.893120+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:21:05.411426+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LEF1 as Green List (high evidence)","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:21:05.398864+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lef1 has been classified as Green List (High Evidence).","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T16:20:26.661528+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LEF1 was added\ngene: LEF1 was added to Radial Ray Abnormalities. Sources: Literature\nMode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LEF1 were set to 35583550\nPhenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related\nReview for gene: LEF1 was set to GREEN\nAdded comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype. \nSources: Literature","entity_name":"LEF1","entity_type":"gene"},{"created":"2022-09-01T12:47:01.220105+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4911","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Intellectual disability; HP:0001249; Neurodevelopmental delay; HP:0012758","entity_name":null,"entity_type":null},{"created":"2022-09-01T07:31:32.179346+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250","entity_name":"REEP1","entity_type":"gene"},{"created":"2022-09-01T07:30:25.114252+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"REEP1","entity_type":"gene"},{"created":"2022-08-31T19:31:24.712928+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Ataxia, HP:0001251","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:29:58.842441+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Flexion contracture, HP:0001371","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:24:56.628575+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Aortic aneurysm, HP:0004942;Joint dislocation, HP:0001373;Cutis laxa, HP:0000973; Ectopia lentis, HP:0001083;Arachnodactyly, HP:0001166","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:21:26.552030+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Anophthalmia, HP:0000528;Microphthalmia, HP:0000568;Coloboma, HP:0000589","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:19:26.187331+10:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Achromatopsia, HP:0011516","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:18:48.534839+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:16:27.048367+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1646","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Seizure, HP:0001250","entity_name":null,"entity_type":null},{"created":"2022-08-31T19:14:51.744602+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4910","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Intellectual disability, HP:0001249; Neurodevelopmental delay, HP:0012758","entity_name":null,"entity_type":null},{"created":"2022-08-31T14:13:34.836295+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM218 as ready","entity_name":"TMEM218","entity_type":"gene"},{"created":"2022-08-31T14:13:34.824430+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"}]}