{"count":221348,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=577","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=575","results":[{"created":"2023-07-25T16:39:14.896980+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF15 as ready","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:39:14.886345+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:39:11.604998+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:38:53.891873+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF15 as ready","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:38:53.881172+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:38:48.130915+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:38:03.429828+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF15 as ready","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:38:03.420411+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:37:54.473616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1011","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:37:31.508626+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:36:50.180116+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF15 as ready","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:36:50.168294+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:36:46.793004+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:35:39.177522+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.215","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCAF15 as Amber List (moderate evidence)","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:35:39.166934+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:35:06.541638+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCAF15 as ready","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:35:06.532056+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:35:01.523410+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCAF15 as Amber List (moderate evidence)","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:35:01.506398+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T16:34:49.577174+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Luisa Weiss","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMGNT1 were set to 33528536; 17881266; 34077496\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Retinitis pigmentosa 76 MIM#617123\nReview for gene: POMGNT1 was set to GREEN\nAdded comment: One case report of two brothers diagnosed with CP and later found to have POMGnt1 biallelic mutations. In addition, two additional cases in two large CP cohort studies presenting with biallelic POMGnT1 mutations. \nSources: Literature","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2023-07-25T16:34:25.407721+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTCH1 as ready","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T16:34:25.396586+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T16:34:08.072025+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTCH1 as Amber List (moderate evidence)","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T16:34:08.061582+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptch1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T16:30:28.766660+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.201","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PDHA1","entity_type":"gene"},{"created":"2023-07-25T16:10:50.829899+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Luisa Weiss","item_type":"entity","text":"gene: POGZ was added\ngene: POGZ was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POGZ were set to 33528536\nPhenotypes for gene: POGZ were set to White-Sutton syndrome\tMIM#616364\nReview for gene: POGZ was set to AMBER\nAdded comment: 2 cases in one large cohort study, one with a likely pathogenic mutation and one with a pathogenic mutation. \nSources: Literature","entity_name":"POGZ","entity_type":"gene"},{"created":"2023-07-25T15:39:54.083765+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.201","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301726, 11310631; Phenotypes: hereditary sensory and autonomic neuropathy type 4 MONDO:0009746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NTRK1","entity_type":"gene"},{"created":"2023-07-25T15:18:29.229865+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Luisa Weiss","item_type":"entity","text":"changed review comment from: 2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with childhood onset of sometimes very slowly progressive motor disease \nSources: Literature; to: 2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with HSP 39: childhood onset of potentially very slowly progressive motor disease \r\nSources: Literature","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2023-07-25T15:17:59.632273+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Luisa Weiss","item_type":"entity","text":"gene: PNPLA6 was added\ngene: PNPLA6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 34816117; 34364746\nPhenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020\nReview for gene: PNPLA6 was set to AMBER\nAdded comment: 2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with childhood onset of sometimes very slowly progressive motor disease \nSources: Literature","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2023-07-25T14:37:41.513469+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.132","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TBX6 as Green List (high evidence)","entity_name":"TBX6","entity_type":"gene"},{"created":"2023-07-25T14:37:41.505390+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.132","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tbx6 has been classified as Green List (High Evidence).","entity_name":"TBX6","entity_type":"gene"},{"created":"2023-07-25T14:37:04.398997+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.131","user_name":"Chirag Patel","item_type":"entity","text":"gene: TBX6 was added\ngene: TBX6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: TBX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBX6 were set to PMID: 36112137, 36161696\nPhenotypes for gene: TBX6 were set to Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome\nReview for gene: TBX6 was set to GREEN\ngene: TBX6 was marked as current diagnostic\nAdded comment: TBX6 encodes transcription-factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes associated with the 16p11.2 deletion syndrome. \r\n\r\nMa et al (2022) reported 16 rare variants in TBX6 from Mayer-Rokitansky-Küster-Hauser syndrome cohort (1 truncating, 15 VUS). They observed a significant mutational burden of TBX6 in affected individuals vs controls. Of the 15 variants with uncertain effects, 7 were shown to induce a loss-of-function effect through various mechanisms (i.e. impaired normal splicing of TBX6 messenger RNA, decreased protein expression, perturbed transcriptional activity, and protein mislocalization). There was observed incomplete penetrance and variable expressivity in families carrying deleterious variants.\r\n\r\nLi et al (2022) reported 7 individuals with vertebral and rib malformations and structural kidney differences associated with heterozygous TBX6 gene deletion in trans with a hypomorphic TBX6 allele or biallelic TBX6 variants. \nSources: Literature","entity_name":"TBX6","entity_type":"gene"},{"created":"2023-07-25T14:36:41.595696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1010","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36112137, 36161696; Phenotypes: Mayer-Rokitansky-Küster-Hauser syndrome, Combined skeletal-kidney dysplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TBX6","entity_type":"gene"},{"created":"2023-07-25T13:53:38.883938+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5283","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: WBP4 as Green List (high evidence)","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-07-25T13:53:38.873453+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5283","user_name":"Chirag Patel","item_type":"entity","text":"Gene: wbp4 has been classified as Green List (High Evidence).","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-07-25T13:53:17.962564+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1010","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: WBP4 as Green List (high evidence)","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-07-25T13:53:17.955137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1010","user_name":"Chirag Patel","item_type":"entity","text":"Gene: wbp4 has been classified as Green List (High Evidence).","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-07-25T13:52:53.706231+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5282","user_name":"Chirag Patel","item_type":"entity","text":"gene: WBP4 was added\ngene: WBP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WBP4 were set to Neurodevelopmental disorder\nReview for gene: WBP4 was set to GREEN\ngene: WBP4 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n11 individuals from 8 families with homozygous LOF variants in WBP4 gene (4 different variants). Presentation of severe DD and ID, hypotonia, abnormal outer ears, and varying congenital anomalies. WBP4 is spliceosome protein which binds/interacts with SNRNP200. In vivo and in vitro studies previously showed WBP4 enhances splicing and regulates alternative splicing. Patient fibroblasts showed loss of expression of WBP4. RNA sequencing analysis showed abnormal splicing patterns. Proposed spliceosomopathy. \nSources: Other","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-07-25T13:52:39.595949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1009","user_name":"Chirag Patel","item_type":"entity","text":"gene: WBP4 was added\ngene: WBP4 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WBP4 were set to Neurodevelopmental disorder\nReview for gene: WBP4 was set to GREEN\ngene: WBP4 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n11 individuals from 8 families with homozygous LOF variants in WBP4 gene (4 different variants). Presentation of severe DD and ID, hypotonia, abnormal outer ears, and varying congenital anomalies. WBP4 is spliceosome protein which binds/interacts with SNRNP200. In vivo and in vitro studies previously showed WBP4 enhances splicing and regulates alternative splicing. Patient fibroblasts showed loss of expression of WBP4. RNA sequencing analysis showed abnormal splicing patterns. Proposed spliceosomopathy. \nSources: Other","entity_name":"WBP4","entity_type":"gene"},{"created":"2023-07-25T13:36:15.568158+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5281","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KDM2A as Green List (high evidence)","entity_name":"KDM2A","entity_type":"gene"},{"created":"2023-07-25T13:36:15.558665+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5281","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kdm2a has been classified as Green List (High Evidence).","entity_name":"KDM2A","entity_type":"gene"},{"created":"2023-07-25T13:35:48.063511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1008","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KDM2A as Green List (high evidence)","entity_name":"KDM2A","entity_type":"gene"},{"created":"2023-07-25T13:35:48.054086+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1008","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kdm2a has been classified as Green List (High Evidence).","entity_name":"KDM2A","entity_type":"gene"},{"created":"2023-07-25T13:35:32.773497+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5280","user_name":"Chirag Patel","item_type":"entity","text":"gene: KDM2A was added\ngene: KDM2A was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDM2A were set to Neurodevelopmental disorder\nReview for gene: KDM2A was set to GREEN\ngene: KDM2A was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n14 patients with de novo HTZ variants in KDM2A (5 x truncating, 9 x missense)\r\nPresentation with DD, ID (mild), seizures, growth retardation, and dysmorphism.\r\n\r\nFunctional studies:\r\n-patient blood showed aberrant genome wide methylation profile - potential episignature\r\n-HEK293T cells showed altered subcellular localisation of KDM2A\r\n-Drosophila models showed variants caused neurotoxicity \nSources: Other","entity_name":"KDM2A","entity_type":"gene"},{"created":"2023-07-25T13:35:06.589872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1007","user_name":"Chirag Patel","item_type":"entity","text":"gene: KDM2A was added\ngene: KDM2A was added to Mendeliome. Sources: Other\nMode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KDM2A were set to Neurodevelopmental disorder\nReview for gene: KDM2A was set to GREEN\ngene: KDM2A was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n14 patients with de novo HTZ variants in KDM2A (5 x truncating, 9 x missense)\r\nPresentation with DD, ID (mild), seizures, growth retardation, and dysmorphism.\r\n\r\nFunctional studies:\r\n-patient blood showed aberrant genome wide methylation profile - potential episignature\r\n-HEK293T cells showed altered subcellular localisation of KDM2A\r\n-Drosophila models showed variants caused neurotoxicity \nSources: Other","entity_name":"KDM2A","entity_type":"gene"},{"created":"2023-07-25T13:19:07.543576+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.214","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PIP5K1C as Green List (high evidence)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:19:07.531051+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.214","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pip5k1c has been classified as Green List (High Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:19:01.062078+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5279","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PIP5K1C as Green List (high evidence)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:19:01.053154+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5279","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pip5k1c has been classified as Green List (High Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:18:10.709530+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.213","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIP5K1C was added\ngene: PIP5K1C was added to Microcephaly. Sources: Other\nMode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly\nReview for gene: PIP5K1C was set to GREEN\ngene: PIP5K1C was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants).\r\nPresentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism.\r\n\r\nPIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. \nSources: Other","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:17:56.248419+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5278","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIP5K1C was added\ngene: PIP5K1C was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly\nReview for gene: PIP5K1C was set to GREEN\ngene: PIP5K1C was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants).\r\nPresentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism.\r\n\r\nPIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. \nSources: Other","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:17:50.413935+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1006","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PIP5K1C as Green List (high evidence)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:17:50.405340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1006","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pip5k1c has been classified as Green List (High Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T13:17:27.353526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1005","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-07-25T12:59:05.796668+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5277","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: Sufficient evidence for upgrade; to: Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:58:48.885725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1005","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: Sufficient evidence for upgrade; to: Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:54:22.209295+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5277","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NSUN6 as Green List (high evidence)","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:54:22.198320+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5277","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nsun6 has been classified as Green List (High Evidence).","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:54:12.117749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1005","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NSUN6 as Green List (high evidence)","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:54:12.106384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1005","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nsun6 has been classified as Green List (High Evidence).","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:53:49.867986+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1004","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:53:43.761667+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5276","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"NSUN6","entity_type":"gene"},{"created":"2023-07-25T12:47:51.908485+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5276","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: INTS13 as Green List (high evidence)","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:47:51.897969+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5276","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ints13 has been classified as Green List (High Evidence).","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:47:08.635740+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.43","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: INTS13 as Green List (high evidence)","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:47:08.619190+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.43","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ints13 has been classified as Green List (High Evidence).","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:44.292340+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.238","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: INTS13 as Green List (high evidence)","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:44.279590+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.238","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ints13 has been classified as Green List (High Evidence).","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:41.260552+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.125","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: INTS13 as Green List (high evidence)","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:41.238955+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.125","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ints13 has been classified as Green List (High Evidence).","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:34.166191+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1004","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: INTS13 as Green List (high evidence)","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:34.157717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1004","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ints13 has been classified as Green List (High Evidence).","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:17.692187+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.42","user_name":"Chirag Patel","item_type":"entity","text":"gene: INTS13 was added\ngene: INTS13 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:16.484254+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5275","user_name":"Chirag Patel","item_type":"entity","text":"gene: INTS13 was added\ngene: INTS13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:46:04.499670+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.124","user_name":"Chirag Patel","item_type":"entity","text":"gene: INTS13 was added\ngene: INTS13 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:45:55.447821+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.237","user_name":"Chirag Patel","item_type":"entity","text":"gene: INTS13 was added\ngene: INTS13 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:45:50.579576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1003","user_name":"Chirag Patel","item_type":"entity","text":"gene: INTS13 was added\ngene: INTS13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS13 were set to PMID: 36229431\nPhenotypes for gene: INTS13 were set to Oral-facial-digital syndrome\nReview for gene: INTS13 was set to GREEN\ngene: INTS13 was marked as current diagnostic\nAdded comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. \nSources: Literature","entity_name":"INTS13","entity_type":"gene"},{"created":"2023-07-25T12:26:41.040947+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.278","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SLC20A1 as Green List (high evidence)","entity_name":"SLC20A1","entity_type":"gene"},{"created":"2023-07-25T12:26:41.030365+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.278","user_name":"Chirag Patel","item_type":"entity","text":"Gene: slc20a1 has been classified as Green List (High Evidence).","entity_name":"SLC20A1","entity_type":"gene"},{"created":"2023-07-25T12:26:12.636314+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.277","user_name":"Chirag Patel","item_type":"entity","text":"gene: SLC20A1 was added\ngene: SLC20A1 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC20A1 were set to PMID: 32850778, 27013921\nPhenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)\nReview for gene: SLC20A1 was set to GREEN\ngene: SLC20A1 was marked as current diagnostic\nAdded comment: Three individuals with BEEC and animal model supporting role of this gene in urinary tract and urorectal development. \nSources: Literature","entity_name":"SLC20A1","entity_type":"gene"},{"created":"2023-07-25T12:23:00.613430+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.33","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TUBB4B as Green List (high evidence)","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-07-25T12:23:00.604852+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.33","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tubb4b has been classified as Green List (High Evidence).","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-07-25T12:22:30.661377+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.203","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-07-25T12:22:02.692153+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.157","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-07-25T12:21:29.904985+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.32","user_name":"Chirag Patel","item_type":"entity","text":"gene: TUBB4B was added\ngene: TUBB4B was added to Ciliary Dyskinesia. Sources: Other\nMode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TUBB4B were set to Primary ciliary dyskinesia\nReview for gene: TUBB4B was set to GREEN\nAdded comment: ESHG 2023:\r\nDe novo heterozygous TUBB4B variants found in:\r\n-8 patients with recurrent respiratory infections (PCD phenotype), irregular corpus callosum, and dilated ventricles (suggesting motile cilia anomaly)\r\n-3 patients with retinal dystrophy, SNHL, and PCD respiratory issues \r\n\r\nFunctional studies:\r\n-variants showed decreased cilia number and length, and mislocalisation of dyenin motors\r\n-mouse models had decreased cilia number and length in trachea, and reduction in cilia in choroid plexus cells leading to hydrocephaly \nSources: Other","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-07-25T12:21:13.194756+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1002","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2023-07-25T11:58:33.038216+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"gene: PTCH1 was added\ngene: PTCH1 was added to Differences of Sex Development. Sources: Other\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC)\nReview for gene: PTCH1 was set to AMBER\nAdded comment: ESHG 2023:\r\n9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome.\r\n\r\nZebrafish models:\r\na) knock out and knock in (1 missense variant) models showed no phenotype\r\nb) co-injection of WT and missense variant led to altered cloaca on D5. \r\nProposed mechanism is dominant negative effect. \nSources: Other","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T11:57:57.756511+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.276","user_name":"Chirag Patel","item_type":"entity","text":"gene: PTCH1 was added\ngene: PTCH1 was added to Differences of Sex Development. Sources: Other\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC)\nReview for gene: PTCH1 was set to AMBER\nAdded comment: ESHG 2023:\r\n9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome.\r\n\r\nZebrafish models:\r\na) knock out and knock in (1 missense variant) models showed no phenotype\r\nb) co-injection of WT and missense variant led to altered cloaca on D5. \r\nProposed mechanism is dominant negative effect. \nSources: Other","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T11:57:39.342123+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1002","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T11:57:35.842171+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.123","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTCH1","entity_type":"gene"},{"created":"2023-07-25T11:14:44.661018+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5274","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DCAF15 as Amber List (moderate evidence)","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:14:44.629681+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5274","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:14:27.049625+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5274","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DCAF15 as Amber List (moderate evidence)","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:14:27.040830+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5274","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:13:33.888483+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.212","user_name":"Chirag Patel","item_type":"entity","text":"gene: DCAF15 was added\ngene: DCAF15 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:13:32.610715+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"entity","text":"gene: DCAF15 was added\ngene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:13:13.241919+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.41","user_name":"Chirag Patel","item_type":"entity","text":"gene: DCAF15 was added\ngene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:12:45.983917+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1002","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DCAF15 as Amber List (moderate evidence)","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:12:45.967788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1002","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dcaf15 has been classified as Amber List (Moderate Evidence).","entity_name":"DCAF15","entity_type":"gene"},{"created":"2023-07-25T11:12:31.473953+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.212","user_name":"Chirag Patel","item_type":"entity","text":"gene: DCAF15 was added\ngene: DCAF15 was added to Microcephaly. Sources: Other\nMode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome\nReview for gene: DCAF15 was set to AMBER\nAdded comment: ESHG 2023:\r\n3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)\r\nFeatures suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.\r\n\r\nWES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). \r\n\r\nProtein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. \nSources: Other","entity_name":"DCAF15","entity_type":"gene"}]}