{"text_format":"1","workbook":"xlsx","n_sheets":1,"sheets":["RFA4 Working List v4"],"not_rendered":{"charts":0,"images":0,"macros":0,"external_links":0,"defined_names":0,"comments":0,"pivot_tables":0},"unopened":[],"bounds":{"document_bytes":16777216,"sheet_cells":100000,"rows_first":2000,"rows_last":500,"rows_between":2000,"halvings":0,"cell_chars":16384,"cell_head_chars":4096},"cells_cut":0,"cells_raw":0,"read":"whole","date_system":"1904"}

{"sheet":"RFA4 Working List v4","index":0,"n_rows":19,"n_cols":7,"rows_kept":19,"cut":false,"hidden":false,"merged":[]}
["Patient","Gene","Chr","Chromosome Position (all hg19)","Transcript","Sanger","Selected Phenotype Descriptors"]
["UDP_5582","CALCRL",2,"Chr2(GRCh37):g.188211027A>G","NM_005795.5(CALCRL):c.1270T>C:p.Ser42Pro","Yes","Adult onset spastic paraparesis"]
["UDP_5532","FAM109A",12,"Chr12(GRCh37):g.111801216G>A","NM_001177996.1(FAM109A):c.55C>T;p.Arg19Cys","Yes","Dysmorphic facies, brachycephaly, global developmental delay, hypotonia, bilateral hearling loss"]
["UDP_755","GBAS",7,"Chr7(GRCh37):g.56045907C>G","NM_001483.2(GBAS):c.181C>G:p.His61Asp","Yes","Craniosynostosis, microcephaly, congenital extremity contractures, global developmental delay"]
["UDP_6218","GRB10",7,"Chr7(GRCh37):g.50672008C>T","NM_005311.4(GRB10):c.1456G>A: p.Val486Met","Yes","Failure to thrive, dysmorphic facial features, hypotonia, ketotic hypoglycemia, short stature, cataracts"]
["UDP_421","HIF3A",19,"Chr19(GRCh37):g.46807297A>G","NM_152795.2(HIF3A):c.169A>G;p.Met57Val","Yes","Microcephaly, progressive white and gray matter atrophy, seizures, cortical blindnexx, hypertension"]
["UDP_1480","L3MBTL1",20,"20:42143694-C-T","NM_032107.4(L3MBTL1):c.482C>T;p.Pro161Leu","Yes","Autistic spectrum disorder-like features, chorea, seizures, stereotypic hand movements"]
["UDP_1480","L3MBTL1",20,"20:42143936-G-A","NM_032107.4(L3MBTL1):c.592G>A;p.Val198Ile","Yes"]
["UDP_3668","PLXNB3","X","X:153040229-G-C","NM_001163257.1(PLXNB3):c.3968G>C:p.Gly1323Ala","Yes","Congenital hypotonia, myoclonic seizures, sensorineural hearing loss, global developmental delay, leukodystrophy and dysmyelination"]
["UDP_3374","SCYL1",11,"11:65294330-C-T","NM_020680.3(SCYL1):c.679C>T;p.Arg227Cys","Yes","Cyclic fevers and cerebrospinal fluid pleocytosis of unknown etiology"]
["UDP_7490","SHROOM2","X","X:9905262-C-T","NM_001649.2(SHROOM2):c.3676C>T;p.Arg1226Cys","Yes","Limb-girdle muscle weakness, intellectual disability"]
["UDP_2780","SLC12A2",5,"Chr5(GRCh37):g.127514357_127514367del","NM_001046.2(SLC12A2):c.3076_3086del; p.Val1026Phefs*2","Yes","Exercise intolerance, dilated cardiomyopathy, episodic hypoglycemia progressing to unexplained failure of intestinal function/food tolerance with subsequent parenteral nutrition dependency"]
["UDP_755","SLC41A2",12,"12:105199004-C-T","NM_032148.3(SLC41A2):c.1648G>A;p.Gly550Arg","Yes","Craniosynostosis, microcephaly, congenital extremity contractures, global developmental delay"]
["UDP_7621","UBTF",17,"17:42290219-C-T","NM_014233.2(UBTF):c.628G>A;p.Glu210Lys","Yes","Stuttering, progressive gross motor develomental abnormalities, high-pitched voice, obsessive-compulsive behaviors, progression to mutism, dystoina."]
["UDP_5145","WDR59",16,"16:74949784-C-T","NM_030581.3(WDR59):c.1208G>A; p.Arg403Gln","Yes","Ex-28 week gestational age at birth. Seizures, gait distrubance, epilepsia partialis continua, polymyoclonus, hyperreflexia."]
["UDP_2367","ZC3H13",13,"Chr13(GRCh37):g.46538157C>T","NM_015070.3(ZC3H13):c.4495G>A;p.Val1499Met","Yes","Global developmental delay, left hemiparesis, sleep distrubance, lower limb hypertonia, severe expressive language delay"]
["UDP_2367","ZC3H13",13,"Chr13(GRCh37):g.46538118G>T","NM_015070.3(ZC3H13):c.4534C>A;p.Pro1512Thr","Yes"]
["UDP_988","ZKSCAN2",16,"16:25263272-G-A","NM_001012981.4(ZKSCAN2):c.763C>T;p.Arg255Trp","Yes","Multiple congenital hemangiomas, seizures, hepatosplenomegaly, intellecutual disability"]
["UDP_988","ZKSCAN2",16,"16:25251643-C-T","NM_001012981.4(ZKSCAN2):c.2398G>A;p.Glu800Lys","Yes"]