{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Kop","HAI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11247","gene_name":"serine peptidase inhibitor, Kunitz type 2","omim_gene":["605124"],"alias_name":["placental bikunin"],"gene_symbol":"SPINT2","hgnc_symbol":"SPINT2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:38734675-38783254","ensembl_id":"ENSG00000167642"}},"GRch38":{"90":{"location":"19:38244035-38292614","ensembl_id":"ENSG00000167642"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"SPINT2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Diarrhea 3, secretory sodium, congenital, syndromic\t270420"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":"553f9697bb5a1616e5ed45d3","name":"Choanal atresia","disease_group":"Skeletal disorders","disease_sub_group":"Choanal anomalies","status":"public","version":"1.13","version_created":"2019-06-20T15:10:33.283018Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["Kop","HAI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11247","gene_name":"serine peptidase inhibitor, Kunitz type 2","omim_gene":["605124"],"alias_name":["placental bikunin"],"gene_symbol":"SPINT2","hgnc_symbol":"SPINT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38734675-38783254","ensembl_id":"ENSG00000167642"}},"GRch38":{"90":{"location":"19:38244035-38292614","ensembl_id":"ENSG00000167642"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"SPINT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24142340","19185281","17786112"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Polydactyly","Diarrhea 3, secretory sodium, congenital, syndromic, 270420","hexadactyly","congenital sodium diarrhea with additional syndromic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"number_of_strs":0,"number_of_regions":1},"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"}]}},{"gene_data":{"alias":["Kop","HAI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11247","gene_name":"serine peptidase inhibitor, Kunitz type 2","omim_gene":["605124"],"alias_name":["placental bikunin"],"gene_symbol":"SPINT2","hgnc_symbol":"SPINT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38734675-38783254","ensembl_id":"ENSG00000167642"}},"GRch38":{"90":{"location":"19:38244035-38292614","ensembl_id":"ENSG00000167642"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"SPINT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19185281","24142340"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["congenital sodium diarrhea","Congenital tufting enteropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":514,"hash_id":null,"name":"Intestinal failure","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-04T09:28:37.913347Z","relevant_disorders":["R331"],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"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":"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":["Kop","HAI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11247","gene_name":"serine peptidase inhibitor, Kunitz type 2","omim_gene":["605124"],"alias_name":["placental bikunin"],"gene_symbol":"SPINT2","hgnc_symbol":"SPINT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38734675-38783254","ensembl_id":"ENSG00000167642"}},"GRch38":{"90":{"location":"19:38244035-38292614","ensembl_id":"ENSG00000167642"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"SPINT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29575628","24142340"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Diarrhea 3, secretory sodium, congenital, syndromic, 270420","optic nerve coloboma","congenital sodium diarrhea with additional features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":294,"hash_id":"5550a166bb5a161bf644a3b6","name":"Ocular coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.34","version_created":"2019-06-20T15:15:14.600523Z","relevant_disorders":[],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["Kop","HAI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11247","gene_name":"serine peptidase inhibitor, Kunitz type 2","omim_gene":["605124"],"alias_name":["placental bikunin"],"gene_symbol":"SPINT2","hgnc_symbol":"SPINT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38734675-38783254","ensembl_id":"ENSG00000167642"}},"GRch38":{"90":{"location":"19:38244035-38292614","ensembl_id":"ENSG00000167642"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"SPINT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29575628","24142340,"],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420","congenital sodium diarrhea with additional features","optic nerve coloboma","Diarrhea 3, secretory sodium, congenital, syndromic, 270420"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"types":[{"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)"}]}}]}