{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=617","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=615","results":[{"created":"2023-04-06T12:52:35.426956+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Karina Sandoval","item_type":"entity","text":"changed review comment from: PMID: 37013901 identified 6 individuals with Rothmund-Thomson syndrome, two new identified and 4 were already published. 5 were hom, 1 was chet, all with different variants. Additionally all presented with neuro dev delay and seizures.\r\n\r\nCRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors,\r\n\r\nc.132del p.(Ala45Glyfs*82), hom\r\nc.227G>A, p.(Cys76Tyr), hom\r\nc.133_134insGG,p.(Ala45Glyfs*82),hom\r\nc.141del p.(Phe47Leufs*84), hom\r\nc.8G>A p.(Cys3Tyr), 1,331 bp del exon 1, chet\r\nc.7_8del; p.(Cys3Argfs*4), hom; to: PMID: 37013901 identified 6 individuals with Rothmund-Thomson syndrome characterised by poikiloderma, sparse hair, small stature, skeletal defects, cancer, cataracts, resembling features of premature aging. Two new variants identified and 4 were already published. 5 were hom, 1 was chet, all with different variants.\r\nAll CRIPT individuals fulfilled the diagnostic criteria for RTS, and additionally had neurodevelopmental delay and seizures.\r\n\r\nCRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors,\r\n\r\nc.132del p.(Ala45Glyfs*82), hom\r\nc.227G>A, p.(Cys76Tyr), hom\r\nc.133_134insGG,p.(Ala45Glyfs*82),hom\r\nc.141del p.(Phe47Leufs*84), hom\r\nc.8G>A p.(Cys3Tyr), 1,331 bp del exon 1, chet\r\nc.7_8del; p.(Cys3Argfs*4), hom","entity_name":"CRIPT","entity_type":"gene"},{"created":"2023-04-06T12:52:26.719833+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.93","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36945405; Phenotypes: Atrial septal defect 5 MIM#612794, Cardiomyopathy, dilated, 1R MIM#613424, Cardiomyopathy, hypertrophic, 11 MIM#612098, ACTC1 related distal arthrogryposis MONDO:0019942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:51:12.485635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CEP162 was added\ngene: CEP162 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP162 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP162 were set to 36862503\nPhenotypes for gene: CEP162 were set to Retinitis pigmentosa MONDO:0019200, CEP162-related\nPenetrance for gene: CEP162 were set to unknown\nReview for gene: CEP162 was set to AMBER\ngene: CEP162 was marked as current diagnostic\nAdded comment: 2 patients from reportedly unrelated consanguineous Moroccan families with the same homozygous frameshift variant reported with late-onset retinal degeneration. Patient 1 was diagnosed with RP at age 60, patient 2 at age 69. Both reported loss of visual acuity in the years prior.\r\n\r\nImmunoblotting of cell lysates from patient fibroblasts showed that some mutant transcript escaped NMD. Functional testing showed that the truncated protein could bind microtubules but was unable to associate with centrioles or its interaction partner CEP290. Patient fibroblasts were shown to have delayed ciliation.\r\n\r\nMutant protein was unable to rescue loss of cilia in CEP162 knockdown mice supporting that the mutant protein does not retain any ciliary function, however additional data supported that the truncated protein was able to bind microtubules and function normally during neuroretinal development. The authors suggest this likely underlies the late-onset RP in both patients.\r\n\r\nRated Amber because only a single variant has been reported in patients who may or may not be related (same ethnic background). \nSources: Literature","entity_name":"CEP162","entity_type":"gene"},{"created":"2023-04-06T12:50:43.036659+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTC1 as ready","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:50:43.029129+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actc1 has been classified as Green List (High Evidence).","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:50:40.961327+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Lilian Downie","item_type":"entity","text":"gene: ACTC1 was added\ngene: ACTC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTC1 were set to PMID: 36945405\nPhenotypes for gene: ACTC1 were set to Atrial septal defect 5 MIM#612794; Cardiomyopathy, dilated, 1R MIM#613424; Cardiomyopathy, hypertrophic, 11 MIM#612098; ACTC1 related distal arthrogryposis MONDO:0019942\nReview for gene: ACTC1 was set to GREEN\nAdded comment: ClinGen definitive association with HCM, moderate for DCM \r\n5 new families (8 individuals) with a distral arthrogryposis phenotype (PMID: 36945405) \r\nmultiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy \r\nfacial features: microretrognathia, ptosis, downslanting palpebral fissures, low-set ears, and a long nasal bridge \r\nAll missense variants \nSources: Literature","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:50:31.869145+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.197","user_name":"Michelle Torres","item_type":"entity","text":"gene: CLCN2 was added\ngene: CLCN2 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLCN2 were set to 36964785\nPhenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia MIM#\t615651\nReview for gene: CLCN2 was set to GREEN\nAdded comment: The homozygous R753X was detected in a Chinese individual from a consanguineous family with leukodystrophy with ataxia (LKPAT) (described in a previous paper) as well as severe bilateral retinal degeneration with loss of photoreceptor and RPE.\r\n\r\nFour additional patients with LKPAT (described elsewhere) have been reported with homozygous variants and ocular features (Table 1).\r\n\r\nTransfection to HEK293T cells showed that R753X reduced channel activity compared to wild-type.\r\n\r\nAdditionally, patient iPSC-derived RPE cells carrying the R753X exhibited dysfunctional ClC-2 chloride channels and outer segment phagocytosis. These functions were rescued following the repair of the CLCN2 mutation using the CRISPR-Cas9 system. NB: No significant difference was observed in the R753X mRNA expression levels between the control and patient hiPSC-RPE cells (suggesting NMD escape). \nSources: Literature","entity_name":"CLCN2","entity_type":"gene"},{"created":"2023-04-06T12:50:19.961493+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTC1 as Green List (high evidence)","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:50:19.951589+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actc1 has been classified as Green List (High Evidence).","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:50:18.730017+10:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.8","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33729480, 35355835, 33891857, 36995941; Phenotypes: Cerebral malformation, MONDO:0016054, MAP3K3-related; Mode of inheritance: Other","entity_name":"MAP3K3","entity_type":"gene"},{"created":"2023-04-06T12:48:39.100537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Karina Sandoval","item_type":"entity","text":"reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRIPT","entity_type":"gene"},{"created":"2023-04-06T12:48:10.683318+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.131","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CEP162 was added\ngene: CEP162 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: CEP162 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP162 were set to 36862503\nPhenotypes for gene: CEP162 were set to Retinitis pigmentosa MONDO:0019200, CEP162-related\nPenetrance for gene: CEP162 were set to unknown\nReview for gene: CEP162 was set to AMBER\ngene: CEP162 was marked as current diagnostic\nAdded comment: 2 patients from reportedly unrelated consanguineous Moroccan families with the same homozygous frameshift variant reported with late-onset retinal degeneration. Patient 1 was diagnosed with RP at age 60, patient 2 at age 69. Both reported loss of visual acuity in the years prior.\r\n\r\nImmunoblotting of cell lysates from patient fibroblasts showed that some mutant transcript escaped NMD. Functional testing showed that the truncated protein could bind microtubules but was unable to associate with centrioles or its interaction partner CEP290. Patient fibroblasts were shown to have delayed ciliation. \r\n\r\nMutant protein was unable to rescue loss of cilia in CEP162 knockdown mice supporting that the mutant protein does not retain any ciliary function, however additional data supported that the truncated protein was able to bind microtubules and function normally during neuroretinal development. The authors suggest this likely underlies the late-onset RP in both patients.\r\n\r\nRated Amber because only a single variant has been reported in patients who may or may not be related (same ethnic background). \nSources: Literature","entity_name":"CEP162","entity_type":"gene"},{"created":"2023-04-06T12:48:02.446699+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAPC4 as ready","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:48:02.430480+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:47:25.963297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DOCK11 as ready","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:47:25.955631+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dock11 has been classified as Green List (High Evidence).","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:47:12.616571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DOCK11 as Green List (high evidence)","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:47:12.603799+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.776","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dock11 has been classified as Green List (High Evidence).","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:46:58.971186+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAPC4 as Green List (high evidence)","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:46:58.964210+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:46:37.956107+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.93","user_name":"Chern Lim","item_type":"entity","text":"gene: ESAM was added\ngene: ESAM was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESAM were set to 36996813\nPhenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related\nReview for gene: ESAM was set to GREEN\ngene: ESAM was marked as current diagnostic\nAdded comment: PMID 36996813\r\n-\tThirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.\r\n-\tAffected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.\r\n-\tOne of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.\r\n-\tThe c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin) \nSources: Literature","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:45:53.954908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.775","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28051070, 36917474; Phenotypes: Leukodystrophy MONDO:0019046, POLR1A-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:45:50.488977+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.50","user_name":"Chern Lim","item_type":"entity","text":"gene: ESAM was added\ngene: ESAM was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESAM were set to 36996813\nPhenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related\nReview for gene: ESAM was set to GREEN\ngene: ESAM was marked as current diagnostic\nAdded comment: PMID 36996813\r\n-\tThirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.\r\n-\tAffected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.\r\n-\tOne of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.\r\n-\tThe c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin) \nSources: Literature","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:45:45.920807+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.168","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DOCK11 as ready","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:45:45.889810+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.168","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dock11 has been classified as Green List (High Evidence).","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:45:30.308831+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAPC4 as ready","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:45:30.300773+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:45:29.692769+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.168","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DOCK11 as Green List (high evidence)","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:45:29.681147+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.168","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dock11 has been classified as Green List (High Evidence).","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:45:20.961332+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5197","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAPC4 as Green List (high evidence)","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:45:20.953090+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:45:03.963844+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1836","user_name":"Chern Lim","item_type":"entity","text":"gene: ESAM was added\ngene: ESAM was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESAM were set to 36996813\nPhenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related\nReview for gene: ESAM was set to GREEN\ngene: ESAM was marked as current diagnostic\nAdded comment: PMID 36996813\r\n-\tThirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.\r\n-\tAffected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.\r\n-\tOne of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.\r\n-\tThe c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin) \nSources: Literature","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:44:42.636961+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAPC4 as ready","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:44:42.593700+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:44:35.860397+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAPC4 as Green List (high evidence)","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:44:35.850500+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:44:10.433602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.775","user_name":"Chern Lim","item_type":"entity","text":"gene: ESAM was added\ngene: ESAM was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESAM were set to 36996813\nPhenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related\nReview for gene: ESAM was set to GREEN\ngene: ESAM was marked as current diagnostic\nAdded comment: PMID 36996813\r\n-\tThirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.\r\n-\tAffected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.\r\n-\tOne of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.\r\n-\tThe c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin) \nSources: Literature","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:43:53.638164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.775","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAPC4 as ready","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:43:53.627334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.775","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:43:28.514706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.775","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAPC4 as Green List (high evidence)","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:43:28.504554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.775","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snapc4 has been classified as Green List (High Evidence).","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:43:21.636184+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4 \r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature; to: - Ten individuals from eight families with neurodevelopmental disorder found to be biallelic for variants in SNAPC4 \r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \r\nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:43:00.128795+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.57","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature; to: - Ten individuals from eight families with neurodevelopmental disorder found to be biallelic for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \r\nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:42:39.219868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Lucy Spencer","item_type":"entity","text":"gene: DOCK11 was added\ngene: DOCK11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DOCK11 were set to 36952639\nPhenotypes for gene: DOCK11 were set to autoimmune disease MONDO:0007179, DOCK11-related\nReview for gene: DOCK11 was set to GREEN\nAdded comment: 8 male patients from 7 unrelated families all with hemizygous DOCK11 missense variants. 6 mothers were tested and found to carry the same missense. Early onset autoimmuniy with cytopenia, systemic lupus erythematosus, and skin and digestive manifestations. Patients platelets had abnormal morphology and spreading as well as impaired CDC42 activity. In vitro activated T cells and B lymphoblastoid cell lines (B-LCL) of patients exhibited aberrant protrusions and abnormal migration speed in confined channels concomitant with altered actin polymerization during migration. A DOCK11 knock-down recapitulated these abnormal cellular phenotypes in monocytes-derived dendritic cells (MDDC) and primary activated T cells from healthy controls. \r\n\r\n6 of the variants are either absent or have only 1 het in gnomad v2, but one of them has 2 hemis and 1 het. The patient with this variant R1885C  does seem to be more mild. \nSources: Literature","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:42:33.357147+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.195","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature; to: - Ten individuals from eight families with neurodevelopmental disorder found to be biallelic for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \r\nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:41:45.865369+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5196","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature; to: - Ten individuals from eight families with neurodevelopmental disorder found to be biallelic for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \r\nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:38:06.430221+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.394","user_name":"Lilian Downie","item_type":"entity","text":"gene: ACTC1 was added\ngene: ACTC1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTC1 were set to PMID: 36945405\nPhenotypes for gene: ACTC1 were set to MONDO:0019942 ACTC1 related distal arthrogrypsis\nPenetrance for gene: ACTC1 were set to Incomplete\nReview for gene: ACTC1 was set to GREEN\nAdded comment: 5 new families (8 individuals) with a distral arthrogryposis phenotype: \r\nmultiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature\r\nAll missense variants\r\nOne variant p.Arg185Trp previously reported in patient with cardiac phenotype only \nSources: Literature","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:36:31.231637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5196","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ESAM as ready","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:36:31.212314+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5196","user_name":"Seb Lunke","item_type":"entity","text":"Gene: esam has been classified as Green List (High Evidence).","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:36:28.844703+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5196","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ESAM as Green List (high evidence)","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:36:28.836024+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5196","user_name":"Seb Lunke","item_type":"entity","text":"Gene: esam has been classified as Green List (High Evidence).","entity_name":"ESAM","entity_type":"gene"},{"created":"2023-04-06T12:35:35.761304+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: RNH1: Changed rating: RED","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:35:15.725691+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: SNAPC4 was added\ngene: SNAPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPC4 were set to 36965478\nPhenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related\nReview for gene: SNAPC4 was set to GREEN\ngene: SNAPC4 was marked as current diagnostic\nAdded comment: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:35:02.234312+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.523","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: RNH1: Changed rating: RED","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:52.397128+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1836","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: RNH1: Changed rating: RED","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:49.622823+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FILIP1 as ready","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:34:49.592679+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: filip1 has been classified as Green List (High Evidence).","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:34:49.197167+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.167","user_name":"Lucy Spencer","item_type":"entity","text":"gene: DOCK11 was added\ngene: DOCK11 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DOCK11 were set to 36952639\nPhenotypes for gene: DOCK11 were set to autoimmune disease MONDO:0007179, DOCK11-related\nReview for gene: DOCK11 was set to GREEN\nAdded comment: 8 male patients from 7 unrelated families all with hemizygous DOCK11 missense variants. 6 mothers were tested and found to carry the same missense. Early onset autoimmuniy with cytopenia, systemic lupus erythematosus, and skin and digestive manifestations. Patients platelets had abnormal morphology and spreading as well as impaired CDC42 activity. In vitro activated T cells and B lymphoblastoid cell lines (B-LCL) of patients exhibited aberrant protrusions and abnormal migration speed in confined channels concomitant with altered actin polymerization during migration. A DOCK11 knock-down recapitulated these abnormal cellular phenotypes in monocytes-derived dendritic cells (MDDC) and primary activated T cells from healthy controls. \r\n\r\n6 of the variants are either absent or have only 1 het in gnomad v2, but one of them has 2 hemis and 1 het. The patient with this variant R1885C  does seem to be more mild. \nSources: Literature","entity_name":"DOCK11","entity_type":"gene"},{"created":"2023-04-06T12:34:39.893851+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.351","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: RNH1 as ready","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:39.876396+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.351","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rnh1 has been classified as Red List (Low Evidence).","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:34.729078+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.351","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RNH1 as Red List (low evidence)","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:34.720426+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.351","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: One consanguineous family only","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:34.666923+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.351","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rnh1 has been classified as Red List (Low Evidence).","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:34.296476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: RNH1: Changed rating: RED","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:34:05.668996+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita  MONDO:0015168, FILIP1 to Arthrogryposis multiplex congenita  MONDO:0015168, FILIP1-related","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:34:05.236013+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.93","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: FILIP1: Changed phenotypes: Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:34:02.451105+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.195","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: FILIP1: Changed phenotypes: Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:33:58.312110+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1A as ready","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:33:58.260560+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1a has been classified as Amber List (Moderate Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:33:53.977734+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: FILIP1: Changed phenotypes: Arthrogryposis multiplex congenita MONDO:0015168, FILIP1 related","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:33:43.345950+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FILIP1 were changed from Arthrogryposis multiplex congenita  MONDO:0015168 to Arthrogryposis multiplex congenita  MONDO:0015168, FILIP1","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:33:01.056021+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Dean Phelan","item_type":"entity","text":"gene: MKL2 was added\ngene: MKL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MKL2 were set to PMID: 37013900\nPhenotypes for gene: MKL2 were set to Neurodevelopmental disorder (MONDO:0700092), MKL2-related\nMode of pathogenicity for gene: MKL2 was set to Other\nReview for gene: MKL2 was set to AMBER\nAdded comment: PMID: 37013900\r\n-  de novo missense variants in MKL2 (now known as MRTFB) were identified in two patients with mild dysmorphic features, intellectual disability, global developmental delay, speech apraxia, and impulse control issues. Functional studies in a Drosophila model suggest a gain of function disease mechanism. \nSources: Literature","entity_name":"MKL2","entity_type":"gene"},{"created":"2023-04-06T12:32:23.866272+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.195","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: SNAPC4 was added\ngene: SNAPC4 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPC4 were set to 36965478\nPhenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related\nReview for gene: SNAPC4 was set to GREEN\ngene: SNAPC4 was marked as current diagnostic\nAdded comment: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:31:39.999386+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.93","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FILIP1 was added\ngene: FILIP1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FILIP1 were set to 36943452\nPhenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita MONDO:0015168\nPenetrance for gene: FILIP1 were set to unknown\nReview for gene: FILIP1 was set to GREEN\ngene: FILIP1 was marked as current diagnostic\nAdded comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings.\r\n\r\nPhenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism. \nSources: Literature","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:31:32.971548+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR1A were changed from ataxia; psychomotor retardation; cerebellar and cerebral atrophy; leukodystrophy to Leukodystrophy MONDO:0019046, POLR1A related","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:31:15.608195+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR1A were set to 28051070","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:30:58.825952+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR1A as Amber List (moderate evidence)","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:30:58.811678+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1a has been classified as Amber List (Moderate Evidence).","entity_name":"POLR1A","entity_type":"gene"},{"created":"2023-04-06T12:30:23.076503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature; to: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. No antenatal features reported.\r\nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:30:10.520188+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.57","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: SNAPC4 was added\ngene: SNAPC4 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPC4 were set to 36965478\nPhenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related\nReview for gene: SNAPC4 was set to GREEN\ngene: SNAPC4 was marked as current diagnostic\nAdded comment: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4\r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:30:00.689642+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FILIP1 as Green List (high evidence)","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:30:00.681833+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: filip1 has been classified as Green List (High Evidence).","entity_name":"FILIP1","entity_type":"gene"},{"created":"2023-04-06T12:29:45.791371+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.277","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36945405; Phenotypes: Atrial septal defect 5 MIM#612794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-04-06T12:28:00.557298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: SNAPC4 was added\ngene: SNAPC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAPC4 were set to 36965478\nPhenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder (MONDO#0700092), SNAPC4-related\nReview for gene: SNAPC4 was set to GREEN\ngene: SNAPC4 was marked as current diagnostic\nAdded comment: - Ten individuals from eight families with neurodevelopmental disorder found to be compound heterozygous for variants in SNAPC4 \r\n- Identified variants included 6x missense, 1x nonsense, 1x frameshift and 6x splice\r\n- Depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing, similarly observed in patient fibroblasts \nSources: Literature","entity_name":"SNAPC4","entity_type":"gene"},{"created":"2023-04-06T12:27:28.732576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.774","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAAM2 were changed from Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS); Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:27:12.596817+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.773","user_name":"Krithika Murali","item_type":"entity","text":"gene: RNH1 was added\ngene: RNH1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNH1 were set to PMID: 36935417\nPhenotypes for gene: RNH1 were set to RNH1-related disorder\nReview for gene: RNH1 was set to AMBER\nAdded comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:27:00.281676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.773","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DAAM2 were set to 33232676","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:26:33.325123+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.772","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DAAM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:26:09.866330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.771","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DAAM2: Added comment: AIS: 6 unrelated individuals with extensive functional data.; Changed publications: 33232676, 36972684; Changed phenotypes: Nephrotic syndrome, type 24, MIM# 619263, Steroid-resistant nephrotic syndrome (SRNS), Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:25:57.471114+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAAM2 as ready","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:25:57.463863+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daam2 has been classified as Green List (High Evidence).","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:25:36.691447+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAAM2 as Green List (high evidence)","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:25:36.677842+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: daam2 has been classified as Green List (High Evidence).","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:25:20.971570+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.350","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature; to: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \r\nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:25:08.847712+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAAM2 was added\ngene: DAAM2 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: DAAM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DAAM2 were set to 36972684\nPhenotypes for gene: DAAM2 were set to Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related\nReview for gene: DAAM2 was set to GREEN\nAdded comment: 6 unrelated individuals with extensive functional data. \nSources: Literature","entity_name":"DAAM2","entity_type":"gene"},{"created":"2023-04-06T12:24:55.323979+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1836","user_name":"Krithika Murali","item_type":"entity","text":"gene: RNH1 was added\ngene: RNH1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNH1 were set to PMID: 36935417\nPhenotypes for gene: RNH1 were set to RNH1-related disorder\nReview for gene: RNH1 was set to AMBER\nAdded comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:22:42.627351+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.771","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MB as Green List (high evidence)","entity_name":"MB","entity_type":"gene"},{"created":"2023-04-06T12:22:42.617678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.771","user_name":"Elena Savva","item_type":"entity","text":"Gene: mb has been classified as Green List (High Evidence).","entity_name":"MB","entity_type":"gene"},{"created":"2023-04-06T12:22:13.950213+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5195","user_name":"Krithika Murali","item_type":"entity","text":"gene: RNH1 was added\ngene: RNH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNH1 were set to PMID: 36935417\nPhenotypes for gene: RNH1 were set to RNH1-related disorder\nReview for gene: RNH1 was set to AMBER\nAdded comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis. \nSources: Literature","entity_name":"RNH1","entity_type":"gene"},{"created":"2023-04-06T12:22:07.343492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.770","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MB as Green List (high evidence)","entity_name":"MB","entity_type":"gene"}]}