{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CtIP","RIM","COM1"],"biotype":"protein_coding","hgnc_id":"HGNC:9891","gene_name":"RB binding protein 8, endonuclease","omim_gene":["604124"],"alias_name":["CTBP-interacting protein"],"gene_symbol":"RBBP8","hgnc_symbol":"RBBP8","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:20378224-20606451","ensembl_id":"ENSG00000101773"}},"GRch38":{"90":{"location":"18:22798261-23026488","ensembl_id":"ENSG00000101773"}}},"hgnc_date_symbol_changed":"1998-02-12"},"entity_type":"gene","entity_name":"RBBP8","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24389050, 21998596"],"evidence":["Expert Review Green","Literature"],"phenotypes":["seckel syndrome but with proportionate head/height impairment, cafe au lair macules"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CtIP","RIM","COM1"],"biotype":"protein_coding","hgnc_id":"HGNC:9891","gene_name":"RB binding protein 8, endonuclease","omim_gene":["604124"],"alias_name":["CTBP-interacting protein"],"gene_symbol":"RBBP8","hgnc_symbol":"RBBP8","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:20378224-20606451","ensembl_id":"ENSG00000101773"}},"GRch38":{"90":{"location":"18:22798261-23026488","ensembl_id":"ENSG00000101773"}}},"hgnc_date_symbol_changed":"1998-02-12"},"entity_type":"gene","entity_name":"RBBP8","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21998596"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Seckel syndrome 2  606744"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"stats":{"number_of_genes":95,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["CtIP","RIM","COM1"],"biotype":"protein_coding","hgnc_id":"HGNC:9891","gene_name":"RB binding protein 8, endonuclease","omim_gene":["604124"],"alias_name":["CTBP-interacting protein"],"gene_symbol":"RBBP8","hgnc_symbol":"RBBP8","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:20378224-20606451","ensembl_id":"ENSG00000101773"}},"GRch38":{"90":{"location":"18:22798261-23026488","ensembl_id":"ENSG00000101773"}}},"hgnc_date_symbol_changed":"1998-02-12"},"entity_type":"gene","entity_name":"RBBP8","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Other","Expert list"],"phenotypes":["MCPH","primary microcephaly","Seckel syndrome 2, 606744 (‌includes microcephaly)","MICROCEPHALIC PRIMORDIAL DWARFISM 2","Jawad syndrome (microcephaly with mental retardation and digital anomalies), 251255","Jawad syndrome, 251255 (‌includes congenital microcephaly)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["CtIP","RIM","COM1"],"biotype":"protein_coding","hgnc_id":"HGNC:9891","gene_name":"RB binding protein 8, endonuclease","omim_gene":["604124"],"alias_name":["CTBP-interacting protein"],"gene_symbol":"RBBP8","hgnc_symbol":"RBBP8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:20378224-20606451","ensembl_id":"ENSG00000101773"}},"GRch38":{"90":{"location":"18:22798261-23026488","ensembl_id":"ENSG00000101773"}}},"hgnc_date_symbol_changed":"1998-02-12"},"entity_type":"gene","entity_name":"RBBP8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24389050, 21998596"],"evidence":["Expert Review Red"],"phenotypes":["seckel syndrome but with proportionate head/height impairment, cafe au lair macules"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["CtIP","RIM","COM1"],"biotype":"protein_coding","hgnc_id":"HGNC:9891","gene_name":"RB binding protein 8, endonuclease","omim_gene":["604124"],"alias_name":["CTBP-interacting protein"],"gene_symbol":"RBBP8","hgnc_symbol":"RBBP8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:20378224-20606451","ensembl_id":"ENSG00000101773"}},"GRch38":{"90":{"location":"18:22798261-23026488","ensembl_id":"ENSG00000101773"}}},"hgnc_date_symbol_changed":"1998-02-12"},"entity_type":"gene","entity_name":"RBBP8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18071751","21998596","24389050","11781686"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Literature"],"phenotypes":["Jawad syndrome, 251255","Microcephaly with mental retardation and digital anomalies","Seckel syndrome, 24389050","growth retardation, microcephaly with mental retardation, and a characteristic facial appearance"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}
