{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=474","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=472","results":[{"created":"2024-04-04T10:40:25.391919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1647","user_name":"Ain Roesley","item_type":"entity","text":"Gene: sass6 has been classified as Green List (High Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:39:57.479861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1646","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their comment","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:39:39.562644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1646","user_name":"Ain Roesley","item_type":"entity","text":"commented on gene: SASS6: PMID: 38501757\r\n1x compound het for a fs and +3 splice variant.\r\n\r\nUsing cDNA RT-ed from mother's RNA, exons 13-15 were amplified and exon 14 was found to be skipped resulting in c.1546_1674del and p.516_558del \r\n\r\nPMID: 36739862\r\n1x family, compound het for 2 missense\r\nFunctional studies not performed","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:38:59.985312+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1646","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38501757, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SASS6","entity_type":"gene"},{"created":"2024-04-04T10:31:59.866874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1646","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: FANCI were changed from Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186 to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186; primary ovarian failure MONDO:0005387, FANCI-related","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:31:35.766437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1645","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: None; Publications: 38483614; Phenotypes: primary ovarian failure MONDO:0005387, FANCI-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:31:25.988046+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.325","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: FANCI: Changed phenotypes: primary ovarian failure MONDO:0005387, FANCI-related","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:29:55.737589+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.325","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FANCI as ready","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:29:55.725829+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.325","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fanci has been classified as Amber List (Moderate Evidence).","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:29:49.508364+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.325","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FANCI as Amber List (moderate evidence)","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:29:49.484187+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.325","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fanci has been classified as Amber List (Moderate Evidence).","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T10:29:33.911655+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.324","user_name":"Ain Roesley","item_type":"entity","text":"gene: FANCI was added\ngene: FANCI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCI were set to 38483614\nReview for gene: FANCI was set to AMBER\ngene: FANCI was marked as current diagnostic\nAdded comment: WES however FANCI was specifically looked at based on KO mouse model which had premature exhaustion of primordial follicles leading to complete sterility.\r\n\r\n2x compound hets: 2x missense + 1x canonical splice+1x missense\r\n\r\nMinigene performed on the splice variant\r\nFunctional assays using KO cells + expression of variant demonstrated reduced ubiquitination of FANCI and increased DNA damage under replication stress \nSources: Literature","entity_name":"FANCI","entity_type":"gene"},{"created":"2024-04-04T09:25:22.286874+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MCOLN1 as Green List (high evidence)","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2024-04-04T09:25:22.274477+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mcoln1 has been classified as Green List (High Evidence).","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2024-04-04T09:24:52.442912+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MCOLN1 as Green List (high evidence)","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2024-04-04T09:24:52.429555+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.10","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mcoln1 has been classified as Green List (High Evidence).","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2024-04-04T09:24:17.231323+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"gene: MCOLN1 was added\ngene: MCOLN1 was added to Corneal Dystrophy. Sources: Literature\nMode of inheritance for gene: MCOLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MCOLN1 were set to PMID: 37972748,\nPhenotypes for gene: MCOLN1 were set to Lisch epithelial corneal dystrophy, OMIM# 620763\nReview for gene: MCOLN1 was set to GREEN\ngene: MCOLN1 was marked as current diagnostic\nAdded comment: 23 affected individuals from 13 families with Lisch epithelial corneal dystrophy. WGS in 2 families and then targeted Sanger sequencing in the other families identified 9 rare heterozygous loss of function variants in MCOLN1. \r\n\r\nHomozygous and compound-heterozygous state of 4 of 9 LECD-associated variants cause Mucolipidosis IV (MLIV), which comprises neurodegeneration as well as corneal opacity of infantile-onset with epithelial autofluorescent lysosomal inclusions. Six parents of 3 patients with MLIV confirmed to carry pathogenic MCOLN1 variants did not have the LECD phenotype. \r\n\r\nHeterozygous MCOLN1 variants can be associated with incomplete penetrance and variable expressivity of LECD with an estimated penetrance of 0.2% for MCOLN1 loss-of-function variants based on gnomAD. \nSources: Literature","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2024-04-04T09:07:35.307365+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.175","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PLXNB2 as Green List (high evidence)","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:07:35.290538+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.175","user_name":"Chirag Patel","item_type":"entity","text":"Gene: plxnb2 has been classified as Green List (High Evidence).","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:07:18.371068+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5742","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PLXNB2 as Green List (high evidence)","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:07:18.358448+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5742","user_name":"Chirag Patel","item_type":"entity","text":"Gene: plxnb2 has been classified as Green List (High Evidence).","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:06:24.757845+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PLXNB2 as Green List (high evidence)","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:06:24.746901+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: plxnb2 has been classified as Green List (High Evidence).","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:03:36.182510+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.174","user_name":"Chirag Patel","item_type":"entity","text":"gene: PLXNB2 was added\ngene: PLXNB2 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLXNB2 were set to PMID: 38458752\nPhenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related\nReview for gene: PLXNB2 was set to GREEN\ngene: PLXNB2 was marked as current diagnostic\nAdded comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease. \r\n\r\nPLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice. \nSources: Literature","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:03:24.735748+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5741","user_name":"Chirag Patel","item_type":"entity","text":"gene: PLXNB2 was added\ngene: PLXNB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLXNB2 were set to PMID: 38458752\nPhenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related\nReview for gene: PLXNB2 was set to GREEN\ngene: PLXNB2 was marked as current diagnostic\nAdded comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease. \r\n\r\nPLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice. \nSources: Literature","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T09:03:05.855143+11:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"1.8","user_name":"Chirag Patel","item_type":"entity","text":"gene: PLXNB2 was added\ngene: PLXNB2 was added to Amelogenesis imperfecta. Sources: Literature\nMode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLXNB2 were set to PMID: 38458752\nPhenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta MONDO:0019507, PLXNB2 -related; Sensorineural hearing loss disorder MONDO:0020678, PLXNB2 -related\nReview for gene: PLXNB2 was set to GREEN\ngene: PLXNB2 was marked as current diagnostic\nAdded comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease. \r\n\r\nPLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice. \nSources: Literature","entity_name":"PLXNB2","entity_type":"gene"},{"created":"2024-04-04T08:43:08.261931+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5740","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:43:08.218367+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5740","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:42:45.194995+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5740","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:42:45.139990+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5740","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:42:13.404474+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5739","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:42:13.397274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5739","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:41:53.480105+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.255","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:41:53.469355+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.255","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:41:50.256582+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5739","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:41:50.226939+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5739","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:41:28.104454+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.254","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:41:28.091397+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.254","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:40:02.490422+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.75","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CEP295 as Green List (high evidence)","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:40:02.468735+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.75","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cep295 has been classified as Green List (High Evidence).","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:40:02.246946+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5738","user_name":"Chirag Patel","item_type":"entity","text":"gene: CEP295 was added\ngene: CEP295 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP295 were set to PMID: 38154379\nPhenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767\nReview for gene: CEP295 was set to GREEN\ngene: CEP295 was marked as current diagnostic\nAdded comment: 4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)). \r\n\r\nPatient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts. \nSources: Literature","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:39:55.051391+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.253","user_name":"Chirag Patel","item_type":"entity","text":"gene: CEP295 was added\ngene: CEP295 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP295 were set to PMID: 38154379\nPhenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767\nReview for gene: CEP295 was set to GREEN\ngene: CEP295 was marked as current diagnostic\nAdded comment: 4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)). \r\n\r\nPatient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts. \nSources: Literature","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:39:16.417121+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.74","user_name":"Chirag Patel","item_type":"entity","text":"gene: CEP295 was added\ngene: CEP295 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP295 were set to PMID: 38154379\nPhenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767\nReview for gene: CEP295 was set to GREEN\ngene: CEP295 was marked as current diagnostic\nAdded comment: 4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)). \r\n\r\nPatient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts. \nSources: Literature","entity_name":"CEP295","entity_type":"gene"},{"created":"2024-04-04T08:07:53.184698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPNS1 as ready","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:07:53.177507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capns1 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:07:43.519400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPNS1 as Amber List (moderate evidence)","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:07:43.507994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capns1 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:06:53.273699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1644","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPNS1 was added\ngene: CAPNS1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPNS1 were set to 38230350\nPhenotypes for gene: CAPNS1 were set to Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related\nReview for gene: CAPNS1 was set to AMBER\nAdded comment: Three individuals from two families reported with homozygous splice site variants. \nSources: Expert list","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:05:21.545586+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAPNS1 as ready","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:05:21.537739+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capns1 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:05:10.104051+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAPNS1 as Amber List (moderate evidence)","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:05:10.088527+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: capns1 has been classified as Amber List (Moderate Evidence).","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T08:05:00.305582+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAPNS1 was added\ngene: CAPNS1 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAPNS1 were set to 38230350\nPhenotypes for gene: CAPNS1 were set to Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related\nReview for gene: CAPNS1 was set to AMBER\nAdded comment: Three individuals from two families reported with homozygous splice site variants. \nSources: Expert list","entity_name":"CAPNS1","entity_type":"gene"},{"created":"2024-04-04T07:10:45.689896+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5737","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP27X were changed from Mental retardation, X-linked 105, MIM#300984 to Intellectual disability, X-linked 105, MIM#300984","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:10:12.090545+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5736","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP27X were set to 25644381","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:09:39.265713+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5735","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP27X as Green List (high evidence)","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:09:39.253880+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5735","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp27x has been classified as Green List (High Evidence).","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:09:01.331725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5734","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP27X: Added comment: Ten additional individuals and further experimental data reported.; Changed rating: GREEN; Changed publications: 25644381, 38182161; Changed phenotypes: Intellectual disability, X-linked 105, MIM#300984","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:08:29.852772+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP27X were changed from Mental retardation, X-linked 105, MIM#300984 to Intellectual disability, X-linked 105, MIM#300984","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:08:10.505357+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1642","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP27X were set to 25644381","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:07:49.589404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1641","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP27X as Green List (high evidence)","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:07:49.580855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1641","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp27x has been classified as Green List (High Evidence).","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-04T07:07:30.757765+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1640","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP27X: Added comment: Ten additional individuals and further experimental data reported.; Changed rating: GREEN; Changed publications: 25644381, 38182161; Changed phenotypes: Intellectual disability, X-linked 105, MIM#300984","entity_name":"USP27X","entity_type":"gene"},{"created":"2024-04-03T19:23:34.511850+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1640","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ZNF143 as Amber List (moderate evidence)","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-03T19:23:34.503269+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1640","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: znf143 has been classified as Amber List (Moderate Evidence).","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-03T19:23:16.477717+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1639","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ZNF143: Rating: AMBER; Mode of pathogenicity: None; Publications: 27349184, 33845046, 9009278, 22268977, 27349184, 27349184; Phenotypes: methylmalonic aciduria and homocystinuria MONDO:0016826; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF143","entity_type":"gene"},{"created":"2024-04-03T19:20:38.211972+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1639","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TCN1 as ready","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T19:20:38.202383+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1639","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcn1 has been classified as Amber List (Moderate Evidence).","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T19:20:25.258184+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1639","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TCN1 as Amber List (moderate evidence)","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T19:20:25.244806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1639","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tcn1 has been classified as Amber List (Moderate Evidence).","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T19:20:05.829469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1638","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TCN1 was added\ngene: TCN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN1 were set to 29764838; 19686235\nPhenotypes for gene: TCN1 were set to transcobalamin I deficiency MONDO:0008659\nReview for gene: TCN1 was set to AMBER\nAdded comment: Unclear if TC1 deficiency is associated with a clinical phenotype and only found 2 families with genetic findings. 1 confirmed chet (2 truncating variants) with severe TC 1 deficiency (depression and anxiety only reported symptoms, had sickle cell trait) & another family with 2 siblings that are presumed homozygous for a truncating variant (no plasma or serum TC 1 levels but no DNA available for genetic testing) which was found heterozygous in multiple first-degree relatives. Unclear if there is a clinical phenotype. Heterozygous individuals displayed mildly low or low-normal TC 1 serum levels. Also, 4 homozygotes were identified in a study of a loss-of-function variant associated with lower vitamin B12 concentration in African Americans but there was limited ability to assess the clinical impact of the recessive disease \nSources: Literature","entity_name":"TCN1","entity_type":"gene"},{"created":"2024-04-03T17:41:32.428001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1637","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FEM1B as Green List (high evidence)","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:41:32.420375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fem1b has been classified as Green List (High Evidence).","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:41:11.184818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1636","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FEM1B were set to PMID: 31036916","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:40:45.783124+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FEM1B were changed from Syndromic intellectual disability to Syndromic disease MONDO:0002254, FEM1B-related","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:40:40.756899+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5734","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FEM1B were changed from Syndromic intellectual disability to Syndromic disease MONDO:0002254, FEM1B-related","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:40:04.728241+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5733","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FEM1B were set to 31036916","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:39:49.460834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FEM1B: Added comment: Five individuals reported now with same recurrent missense variant, NM_015322.5:c.377G>A NP_056137.1:p.(Arg126Gln). Affected individuals shared a severe neurodevelopmental disorder with behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism. Overexpression of the the FEM1BR126Q variant but not FEM1B wild-type protein, during mouse brain development, resulted in delayed neuronal migration of the target cells.; Changed rating: GREEN; Changed publications: 31036916, 38465576; Changed phenotypes: Syndromic disease MONDO:0002254, FEM1B-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:39:13.081750+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5732","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FEM1B as Green List (high evidence)","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:39:13.069468+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5732","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fem1b has been classified as Green List (High Evidence).","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:38:34.970668+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5731","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FEM1B: Added comment: Five individuals reported now with same recurrent missense variant, NM_015322.5:c.377G>A NP_056137.1:p.(Arg126Gln). Affected individuals shared a severe neurodevelopmental disorder with behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism. Overexpression of the the FEM1BR126Q variant but not FEM1B wild-type protein, during mouse brain development, resulted in delayed neuronal migration of the target cells.; Changed rating: GREEN; Changed publications: 31036916, 38465576; Changed phenotypes: Syndromic disease MONDO:0002254, FEM1B-related","entity_name":"FEM1B","entity_type":"gene"},{"created":"2024-04-03T17:36:38.255024+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5731","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP14 as ready","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:36:38.246277+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5731","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Amber List (Moderate Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:36:27.562384+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5731","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP14 as Amber List (moderate evidence)","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:36:27.546654+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5731","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Amber List (Moderate Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:35:29.314292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5730","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP14 as Amber List (moderate evidence)","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:35:29.283982+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Amber List (Moderate Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:34:49.449890+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5729","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP14 was added\ngene: USP14 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP14 were set to 38469793; 35066879\nPhenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related\nReview for gene: USP14 was set to AMBER\nAdded comment: AMBER rating as two of the families had affected fetuses, one had a severely affected newborn, and fourth had a progressive course: none fit well with ID, though there's likely to be a continuum.\r\n\r\nPMID 35066879: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.\r\n\r\nPMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. \nSources: Literature","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T17:29:29.993887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 38529886; Phenotypes: Holoprosencephaly (MONDO:0016296); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DISP1","entity_type":"gene"},{"created":"2024-04-03T15:49:42.469460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1634","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TRPV5 was added\ngene: TRPV5 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: TRPV5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPV5 were set to PMID: 38528055\nPhenotypes for gene: TRPV5 were set to TRPV5-related hypercalciuria (MONDO:0009550)\nReview for gene: TRPV5 was set to RED\nAdded comment: Not a well-established gene-disease association. Has only been reported in one consanguineous family.\r\n\r\nPMID: 38528055\r\n3 individuals from the same family affected with hypercalciuria. \r\nBiallelic Met598Val variant was identified in the proband and his two affect sibs\r\n\r\nFunctional assay using WT and mutant plasmid vectors were transfected into HEK293T cells. The assay showed that the mutant vector had a non-functional TRPV5 channel as compared to the WT however no positive control was used. \nSources: Other","entity_name":"TRPV5","entity_type":"gene"},{"created":"2024-04-03T15:01:55.262779+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5728","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DOCK4: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38526744; Phenotypes: DOCK4-related neurodevelopmental disorder (MONDO:0060490); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"DOCK4","entity_type":"gene"},{"created":"2024-04-03T13:54:00.830559+11:00","panel_name":"Metabolic Disorders Superpanel","panel_id":3465,"panel_version":"8.125","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Calcium and Phosphate disorders; Fatty Acid Oxidation Defects; Hypertension and Aldosterone disorders; Lysosomal Storage Disorder; Neurotransmitter Defects; Disorders of branched chain amino acid metabolism; Glycogen Storage Diseases; Rhabdomyolysis and Metabolic Myopathy; Inherited vitamin B12 or cobalamin deficiency; Mitochondrial disease; Peroxisomal Disorders; Iron metabolism disorders; Dyslipidaemia; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia","entity_name":null,"entity_type":null},{"created":"2024-04-03T12:37:28.620948+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.44","user_name":"Bryony Thompson","item_type":"entity","text":"Tag pharmacogenomic tag was added to gene: DPYD.","entity_name":"DPYD","entity_type":"gene"},{"created":"2024-04-03T11:29:45.753208+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.521","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP14 were set to PMID: 35066879","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:27:12.549192+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP14 as Green List (high evidence)","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:27:12.539083+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Green List (High Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:22:29.941446+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 38469793; Phenotypes: Syndromic disease MONDO:0002254, USP14-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:21:25.185129+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.222","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP14 were set to PMID: 35066879","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:20:09.492229+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP14 as Green List (high evidence)","entity_name":"USP14","entity_type":"gene"},{"created":"2024-04-03T11:20:09.483474+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Green List (High Evidence).","entity_name":"USP14","entity_type":"gene"}]}