{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HSPC139"],"biotype":"protein_coding","hgnc_id":"HGNC:14312","gene_name":"CXXC repeat containing interactor of PDZ3 domain","omim_gene":["604594"],"alias_name":null,"gene_symbol":"CRIPT","hgnc_symbol":"CRIPT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:46843555-46852881","ensembl_id":"ENSG00000119878"}},"GRch38":{"90":{"location":"2:46616416-46625742","ensembl_id":"ENSG00000119878"}}},"hgnc_date_symbol_changed":"2006-06-22"},"entity_type":"gene","entity_name":"CRIPT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMC3912419"],"evidence":["Expert Review Green","Literature"],"phenotypes":["frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly"],"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":["HSPC139"],"biotype":"protein_coding","hgnc_id":"HGNC:14312","gene_name":"CXXC repeat containing interactor of PDZ3 domain","omim_gene":["604594"],"alias_name":null,"gene_symbol":"CRIPT","hgnc_symbol":"CRIPT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:46843555-46852881","ensembl_id":"ENSG00000119878"}},"GRch38":{"90":{"location":"2:46616416-46625742","ensembl_id":"ENSG00000119878"}}},"hgnc_date_symbol_changed":"2006-06-22"},"entity_type":"gene","entity_name":"CRIPT","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27250922 Leduc et al., 2016 describe a female with biallelic mutations in CRIPT, presenting with short stature, dysmorphic features, microcephaly and hypopigmented macules. They detect a c.8G>A (p.C3Y) missense variant inherited from the mother in exon 1, and a 1,331?bp deletion encompassing exon 1, inherited from the father","24389050 Shaheen et al., 2014 report 2 cases: they examined cases with Short stature with microcephaly and distinctive facies (OMIM:615789). In a 3 year old boy they identified homozygosity for a 2bp insertion (c.133_134insGG) predicted to cause premature termination (Ala45GlyfsTer87). They also analyzed DNA from the first-cousin parents of a deceased affected male Saudi Arabian infant. The patient was presumed homozygous for a loss of function variant based on the heterozygous status of the parents."],"evidence":["NHS GMS","Expert Review Amber","Other"],"phenotypes":["Short stature with microcephaly and distinctive facies, 615789"],"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":["HSPC139"],"biotype":"protein_coding","hgnc_id":"HGNC:14312","gene_name":"CXXC repeat containing interactor of PDZ3 domain","omim_gene":["604594"],"alias_name":null,"gene_symbol":"CRIPT","hgnc_symbol":"CRIPT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:46843555-46852881","ensembl_id":"ENSG00000119878"}},"GRch38":{"90":{"location":"2:46616416-46625742","ensembl_id":"ENSG00000119878"}}},"hgnc_date_symbol_changed":"2006-06-22"},"entity_type":"gene","entity_name":"CRIPT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24389050"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HSPC139"],"biotype":"protein_coding","hgnc_id":"HGNC:14312","gene_name":"CXXC repeat containing interactor of PDZ3 domain","omim_gene":["604594"],"alias_name":null,"gene_symbol":"CRIPT","hgnc_symbol":"CRIPT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:46843555-46852881","ensembl_id":"ENSG00000119878"}},"GRch38":{"90":{"location":"2:46616416-46625742","ensembl_id":"ENSG00000119878"}}},"hgnc_date_symbol_changed":"2006-06-22"},"entity_type":"gene","entity_name":"CRIPT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMC3912419"],"evidence":["Expert Review Red"],"phenotypes":["frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly"],"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."}]}}]}