{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1055","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1053","results":[{"created":"2022-01-11T12:31:57.791065+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOPORS was added\ngene: TOPORS was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOPORS were set to 34132027\nPhenotypes for gene: TOPORS were set to MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features\nReview for gene: TOPORS was set to AMBER\nAdded comment: PMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele. Further search did not identify any additional publications.\r\n\r\nNote mono-allelic variants associated with RP. \nSources: Literature","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-11T12:30:00.828235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10582","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to Retinitis pigmentosa 31 (MIM#609923); Ciliopathy, MONDO:0005308, TOPORS-associated, AR","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-11T12:29:26.765884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10581","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-11T12:29:06.954631+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10580","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TOPORS","entity_type":"gene"},{"created":"2022-01-11T12:27:53.251289+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35F1 as ready","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2022-01-11T12:27:53.241516+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35f1 has been classified as Red List (Low Evidence).","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2022-01-11T12:27:46.388339+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35F1 was added\ngene: SLC35F1 was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC35F1 were set to 33821533\nPhenotypes for gene: SLC35F1 were set to Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome\nReview for gene: SLC35F1 was set to RED\nAdded comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.\r\n\r\nGlobal developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech\r\n\r\nNo functional data \nSources: Literature","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2022-01-11T12:26:24.455193+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35F1 as ready","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2022-01-11T12:26:24.445196+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35f1 has been classified as Red List (Low Evidence).","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2022-01-11T12:26:10.401562+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4423","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35F1 was added\ngene: SLC35F1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC35F1 were set to 33821533\nPhenotypes for gene: SLC35F1 were set to Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome\nReview for gene: SLC35F1 was set to RED\nAdded comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.\r\n\r\nGlobal developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech\r\n\r\nNo functional data \nSources: Literature","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2022-01-11T12:23:05.496171+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH1 as ready","entity_name":"MYH1","entity_type":"gene"},{"created":"2022-01-11T12:23:05.485382+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh1 has been classified as Red List (Low Evidence).","entity_name":"MYH1","entity_type":"gene"},{"created":"2022-01-11T12:22:59.024964+11:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH1 was added\ngene: MYH1 was added to Rhabdomyolysis. Sources: Literature\nMode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYH1 were set to 33755318\nPhenotypes for gene: MYH1 were set to rhabdomyolysis, MONDO:0005290\nReview for gene: MYH1 was set to RED\nAdded comment: 18 yr old male from a consaguineous family. WES identified homozygous c.1295A>C:p.K432T variant. Only 1 het in gnomad v2 and v3. No functional data. \nSources: Literature","entity_name":"MYH1","entity_type":"gene"},{"created":"2022-01-11T12:20:29.189821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-11T12:20:10.830932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10578","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TLR8 were set to 33512449","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-11T12:19:51.278938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10577","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TLR8: Added comment: PMID 34981838: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune haemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.; Changed publications: 33512449, 34981838; Changed phenotypes: Immunodeficiency, bone marrow failure, Autoinflammatory syndrome MONDO:0019751","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-11T12:18:37.599576+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TLR8 were changed from periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated to Autoinflammatory syndrome MONDO:0019751, TLR8-associated","entity_name":"TLR8","entity_type":"gene"},{"created":"2022-01-11T09:37:05.408264+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1938","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SF3B4 as ready","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-11T09:37:05.393144+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1938","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sf3b4 has been classified as Green List (High Evidence).","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-11T09:35:35.904532+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1938","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SF3B4 were changed from Acrofacial dysostosis 1, Nager type, MIM# 154400 to Acrofacial dysostosis 1, Nager type, MIM# 154400","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-11T09:35:09.051075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1937","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SF3B4 were set to 22541558","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-11T09:32:42.184776+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1936","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SF3B4 were set to ","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-11T09:31:45.487677+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1935","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SF3B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-11T09:30:43.019215+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1934","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SF3B4 were changed from ACROFACIAL DYSOSTOSIS 1, NAGER TYPE to Acrofacial dysostosis 1, Nager type, MIM# 154400","entity_name":"SF3B4","entity_type":"gene"},{"created":"2022-01-10T18:09:02.005332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053 to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM#\t619692","entity_name":"MARS","entity_type":"gene"},{"created":"2022-01-10T18:08:10.184807+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive, MIM#\t619691Trichothiodystrophy 9, nonphotosensitive, MIM#\t619692","entity_name":"MARS","entity_type":"gene"},{"created":"2022-01-10T18:07:44.582723+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, Trichothiodystrophy 9, nonphotosensitive, MIM# 619692","entity_name":"MARS","entity_type":"gene"},{"created":"2022-01-10T18:07:00.744046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10576","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Spastic paraplegia 85, autosomal recessive, MIM# 619686; Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661","entity_name":"AARS","entity_type":"gene"},{"created":"2022-01-10T18:05:57.752156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF170 as ready","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T18:05:57.741166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf170 has been classified as Green List (High Evidence).","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T18:05:48.433256+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10575","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF170 were changed from  to Spastic paraplegia 85, autosomal recessive, MIM# 619686; Ataxia, sensory, 1, autosomal dominant, MIM# 608984","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T18:05:44.866923+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive\t619691","entity_name":"AARS","entity_type":"gene"},{"created":"2022-01-10T18:05:10.113533+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, Trichothiodystrophy 8, nonphotosensitive, MIM# 619691","entity_name":"AARS","entity_type":"gene"},{"created":"2022-01-10T18:04:35.128908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10574","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNF170 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T18:04:19.152750+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10573","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636353, 21115467, 32943585; Phenotypes: Spastic paraplegia 85, autosomal recessive, MIM# 619686, Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T18:00:11.473101+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF170 were changed from Hereditary spastic paraplegia to Spastic paraplegia 85, autosomal recessive, MIM# 619686","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T17:59:54.629590+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 85, autosomal recessive, MIM# 619686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNF170","entity_type":"gene"},{"created":"2022-01-10T17:20:57.186520+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439109, 9054500; Phenotypes: Renal hypodysplasia/aplasia 1 MIM#191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ITGA8","entity_type":"gene"},{"created":"2022-01-10T17:04:16.465774+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-10T16:27:31.067739+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10573","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: At least 20 probands reported thus far. \r\nNoted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder; to: At least 20 probands reported thus far. \r\nNoted that Val23Met is an Italian founder mutation and Ile50thr is a Pakistani/Bangladeshi founder","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-10T15:50:43.849012+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 25228319, 27165304, 16217705; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"LAMP2","entity_type":"gene"},{"created":"2022-01-10T15:32:36.224304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10573","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: At least 20 probands reported thus far. \r\nNoted that Val23Met is an Italian founder mutation; to: At least 20 probands reported thus far. \r\nNoted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-10T15:32:02.574679+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10573","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"INPP5K","entity_type":"gene"},{"created":"2022-01-10T14:56:42.907199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-01-10T14:46:49.439539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"changed review comment from: Biallelic LAMA3 variants cause junctional epidermolysis bullosa, blistering is present at birth or shortly after.\r\n\r\nLAMA3 also associated with Laryngoonychocutaneous syndrome, which seems to have ulceration in the first few months of life.; to: Biallelic LAMA3 variants cause epidermolysis bullosa, blistering is present at birth or shortly after.\r\n\r\nLAMA3 also associated with Laryngoonychocutaneous syndrome, which appears to have ulceration and other features onset in the first few months of life.","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-10T14:38:38.929727+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10573","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-10T14:38:28.126561+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: IGFBP7: Changed publications: 34519236, 31730227, 32429784","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-10T14:37:04.804808+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-10T14:37:00.680566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis\t614224; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-01-10T14:24:37.385908+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"Deleted their review","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-10T14:16:29.455254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign (MIM#226650), Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Laryngoonychocutaneous syndrome (MIM#245660); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-01-10T14:01:22.976247+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal stromal tumor, familial (MIM#606764), Mastocytosis, cutaneous (MIM#154800), Piebaldism (MIM#172800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIT","entity_type":"gene"},{"created":"2022-01-10T13:58:33.247585+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4422","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:58:04.059039+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4421","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:57:46.012356+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:57:10.095432+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:56:10.807795+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:55:42.939938+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS50: Changed phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:55:24.372341+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:55:06.200457+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10572","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS50: Changed phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:54:48.464119+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:54:15.774098+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS50: Changed phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum","entity_name":"VPS50","entity_type":"gene"},{"created":"2022-01-10T13:53:16.960668+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5G3 as ready","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-10T13:53:16.949595+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5g3 has been classified as Green List (High Evidence).","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-10T13:53:12.841181+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5G3 as Green List (high evidence)","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-10T13:53:12.830076+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5g3 has been classified as Green List (High Evidence).","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-10T13:52:58.802032+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP5G3 was added\ngene: ATP5G3 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5G3 were set to 34636445; 34954817\nPhenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#\t619681\nReview for gene: ATP5G3 was set to GREEN\nAdded comment: Note that HGNC approved gene name is ATP5MC3.\r\n\r\nPMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia. The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity.\r\n\r\nPMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed psychomotor development, lower-extremity spasticity, and elevated blood lactate levels \nSources: Literature","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-10T13:49:47.598189+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10572","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5G3.","entity_name":"ATP5G3","entity_type":"gene"},{"created":"2022-01-10T13:45:25.500939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661","entity_name":"AARS","entity_type":"gene"},{"created":"2022-01-10T13:45:01.342056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10571","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS were set to 28493438; 25817015; 20045102; 22009580; 22206013; 30373780; 26032230; 33909043","entity_name":"AARS","entity_type":"gene"},{"created":"2022-01-10T13:44:23.884878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AARS: Added comment: PMID 31775912: single multigenerational family with leukoencephalopathy segregating AARS1 variant.; Changed publications: 28493438, 25817015, 20045102, 22009580, 22206013, 30373780, 26032230, 31775912; Changed phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287, Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661","entity_name":"AARS","entity_type":"gene"},{"created":"2022-01-10T13:09:42.769099+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KISS1R: Rating: RED; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KISS1R","entity_type":"gene"},{"created":"2022-01-10T13:00:30.468643+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"changed review comment from: Biallelic KCTD7 variants reported in multile families with myoclonic epilepsy. No antenatally relevant features.; to: Biallelic KCTD7 variants reported in multile families with myoclonic epilepsy. \r\n\r\nTwo affected siblings had microcephaly by the age of 12 years and 10 years, but were normal at infancy. ","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-01-10T12:53:41.187190+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: None; Publications: 33767931, 33970744, 22693283, 22748208; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCTD7","entity_type":"gene"},{"created":"2022-01-10T12:39:40.290564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IDH1: Rating: RED; Mode of pathogenicity: None; Publications: 34393643, 34588213, 34624834, 34720940; Phenotypes: Ollier disease MONDO:0008145, Maffucci syndromeMONDO:0013808; Mode of inheritance: Other; Current diagnostic: yes","entity_name":"IDH1","entity_type":"gene"},{"created":"2022-01-10T12:39:32.091255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34393643, 34588213, 34624834, 34720940, 32727816; Phenotypes: Ollier disease MONDO:0008145, Maffucci syndromeMONDO:0013808; Mode of inheritance: Other; Current diagnostic: yes","entity_name":"IDH1","entity_type":"gene"},{"created":"2022-01-10T12:24:41.579960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: 10942115, 17560158, 27604308; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"HPD","entity_type":"gene"},{"created":"2022-01-10T12:13:11.589112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"HNRNPH2","entity_type":"gene"},{"created":"2022-01-10T12:13:09.251355+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"HNRNPH2","entity_type":"gene"},{"created":"2022-01-10T12:04:14.182008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNT1: Rating: RED; Mode of pathogenicity: None; Publications: 23086397, 23086396, 31872048, 31532509; Phenotypes: Epilepsy, nocturnal frontal lobe, 5 (MIM#615005), Epileptic encephalopathy, early infantile, 14 (MIM#614959); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNT1","entity_type":"gene"},{"created":"2022-01-10T11:33:34.186951+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: 31105003, 33134511; Phenotypes: Developmental and epileptic encephalopathy 7 (MIM#613720), Myokymia (MIM#121200), Seizures, benign neonatal, 1 (MIM#121200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2022-01-10T11:32:28.807666+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32421827, 29655892, 25809938, 29453418, 29655892, 28796236; Phenotypes: Silver-Russel syndrome, MIM#618908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"HMGA2","entity_type":"gene"},{"created":"2022-01-10T11:23:50.852536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: None; Publications: 15115830, 17327377; Phenotypes: Diabetes mellitus, transient neonatal 3 (MIM#610582), Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856); Mode of inheritance: None","entity_name":"KCNJ11","entity_type":"gene"},{"created":"2022-01-07T18:37:52.628566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRACR2A as ready","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T18:37:52.624268+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Single individual.","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T18:37:52.591182+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cracr2a has been classified as Red List (Low Evidence).","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T18:37:22.648172+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10570","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRACR2A were changed from Late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; Late onset combined immunodeficiency","entity_name":"CRACR2A","entity_type":"gene"},{"created":"2022-01-07T18:35:53.084349+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:35:53.072528+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:35:49.138615+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1933","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from MAINZER-SALDINO SYNDROME to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:35:37.826242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1932","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to ","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:35:00.322656+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT140: Added comment: Note mono-allelic variants have been associated with renal cysts, but age of onset uncertain.; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:33:01.710468+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:32:31.733227+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to 22503633; 23418020","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:31:57.128651+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:30:53.689833+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:30:51.631346+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature.; to: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature, with early progressive renal disease.","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:30:27.981553+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT140: Added comment: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature.; Changed publications: 22503633, 23418020, 34890546; Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964, Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:28:39.608952+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT140: Changed phenotypes: Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant, Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-01-07T18:28:13.013058+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant","entity_name":"IFT140","entity_type":"gene"}]}