{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6910","gene_name":"matrilin 4","omim_gene":["603897"],"alias_name":null,"gene_symbol":"MATN4","hgnc_symbol":"MATN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43922085-43937169","ensembl_id":"ENSG00000124159"}},"GRch38":{"90":{"location":"20:45293445-45308529","ensembl_id":"ENSG00000124159"}}},"hgnc_date_symbol_changed":"1998-12-15"},"entity_type":"gene","entity_name":"MATN4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25558065"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Red","Literature"],"phenotypes":["Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}