UKGTN Testing Criteria

Transcription

1 Test name: Neonatal Diabetes 22 Gene Panel UKGTN Testing Criteria Approved name and symbol of disorder/condition(s): See Appendix 1 Approved name and symbol of gene(s): See Appendix 1 number(s): number(s): Patient name: Patient postcode: Date of birth: NHS number: Name of referrer: Title/Position: Lab ID: Referrals will only be accept one of the following: Referrer Consultant Endocrinologists Consultant Paediatricians Consultant Clinical Geneticists Tick if this refers to you. Minimum criteria required for testing to be appropriate as stated in the Gene Dossier: Criteria Tick if this patient meets criteria Diabetes diagnosed before 6 months Additional Information: For panel tests: At risk family members where familial mutation is known do not require a full panel test but should be offered analysis of the known mutation If the sample does not fulfil the clinical criteria or you are not one of the specified types of referrer and you still feel that testing should be performed please contact the laboratory to discuss testing of the sample. A

2 Appendix 1 Genes in panel test and associated conditions. Highlighted rows indicate genes that were being fully analysed in the context of a single separate UKGTN test when the gene dossier was submitted for evaluation. HGNC standard HGNC standard Mode Evidence of % of horizontal MLPA Comments name and number Number name of condition of Number association between coverage of symbol of the and symbol inherit gene(s) and condition gene gene ance Potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) Potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) ATP- binding cassette, subfamily C (CFTR/MRP), member 8 (ABCC8) ATP- binding cassette, subfamily C (CFTR/MRP), member 8 (ABCC8) Permanent mellitus Transient Neonatal diabetes mellitus Permanent mellitus. familial 1, Transient neonatal diabetes mellitus familial 1, Insulin (INS) Permanent Neonatal diabetes mellitus and and reces Gloyn et al 2004 N Engl J Med 350, Gloyn et al 2005 HMG 14: ; Edghill et al 2007 J Clin Endocrinol Metab 92: Babenko et al 2006, NEJM 355: Flanagan et al 2007 Diabetes 56, , Stoy et al PNAS 104, , Edghill et al 2008 Diabetes 57, , Garin et al 2010 PNAS 107, % of minimal promoter region, coding region and

3 Forkhead box P3 (FOXP3) Eukaryotic translation initiation factor 2- alpha kinase 3 (EIF2AK3) GATA binding protein 6 (GATA6) GATA binding protein 4 (GATA4) Glucokinase (GCK) GLIS family zinc finger 3 (GLIS3) IPEX syndrome X- linked reces Wolcott-Rallison syndrome Pancreatic agenesis and congenital heart defects Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects Permanent familial 3, Neonatal Diabetes mellitus with congenital hypothyroidism Autos omal domin ant Autos omal domin ant Rubio-Cabezas et al 2011 Diabetes 60: Rubio-Cabezas et al : Lango Allen et al 2011 Nat Genet 44, ed Diabetes Phenoty pe MIM number from De Franco et al 2013 Diabetes 62, Shaw-Smith et al 2014 Diabetes Apr 2 (Epub ahead of print) Njolstad et al 2001 N Engl J Med 344: Senee et al 2006 Nature Genetics 38: , Dimitri et al 2011 EJE 164: intronic

4 HNF1 homeobox B (HNF1B) Pancreatic and duodenal homeobox 1 (PDX1) Neuronal differentiation 1 (NEUROD1) Neurogenin 3 (NEUROG3) Pancreas specific treanscription factor, 1a (PTF1A) NK2 homeobox 2 (NKX2.2) Regulatory factor X, 6 (RFX6) Solute carrier family 19 (thiamine transporter), member 2 (SLC19A2) Transient neonatal diabetes Permanent Permanent and cerebellar agenesis Permanent and enteric anendocrinosis Permanent with cerebellar agenesis Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities Thiaminerespon megaloblastic anemia syndrome Yorifugi et al 2004 J Clin Endocrinol Metab 89: Stoffers et al 1997 Nat Genet 15: , Thomas et al 2009 Pediatr Diabetes 10: Rubio-Cabezas et al 2010 Diabetes 59: Rubio-Cabezas et al 2011 Diabetes 60: Sellick et al 2004 Nat Genet 36: and Weedon et al 2014 Nat Genet 46:61-64 Flanagan et al 2014 Cell Metab 19: Spiegal et al 2011 AM J Med Genet 155: , Smith et al 2010 Nature 463: Shaw-Smith et al 2012 Pediatr Diabetes 13:

5 Solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2) Immediate early response 3 interacting protein 1 (IER3IP1) Motor neuron and pancreas homeobox 1 (MNX1) ZFP57 zinc finger protein Signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3) Fanconi-Bickel syndrome Microcephaly, epilepsy and diabetes syndrome Transient Neonatal Diabetes Neonatal diabetes and additional multi-organ autoimmunity Sansbury et al 2012 Diabetologia 55: Abdel-Salam et al 2012 Am J Med Genet 158: Flanagan et al 2014 Cell Metab 19: Mackay et al 2008 Nat Genet 40: Flanagan et al 2014 Nature Genetics (In press)