Rare Disease Conditions Eligibility Criteria v1.6.0 Document Record ID Key Work stream Rare Diseases Programme Director Mark Caulfield Status Final Document Owner Richard Scott Version 1.0 Document Author Andrew Devereau, Richard Scott Version Date 16/12/2016 Ellen Thomas Document History The controlled copy of this document is maintained in the Genomics England internal document management system. Any copies of this document held outside of that system, in whatever format (for example, paper, email attachment), are considered to have passed out of control and should be checked for currency and validity. This document is uncontrolled when printed. Version History Version Date Description 0.1 14/12/2016 First draft from RC2 v1.6 catalogue 0.2 14/12/2016 Upgraded after review by Richard Scott 1.0 16/12/2016 Moved to 1.0 for distribution to NHSE Reviewers This document must be reviewed by the following: Name Title Version Richard Scott Clinical Lead for Rare Disease 0.1 Approvers This document must be approved by the following: Name Responsibility Date Version Tom Fowler Director of Public Health 16/12/16 1.0 on behalf of Mark Caulfield Chief Scientist RARE DISEASE CONDITIONS ELIGIBILITY CRITERIA | v1.6.0 1 Contents Quick links page ................................................................................................................................................................ 12 Introduction ...................................................................................................................................................................... 13 Purpose of this document ............................................................................................................................................. 13 Structure and background to eligibility statements ...................................................................................................... 13 Changes since the last release ...................................................................................................................................... 14 Rare Disease Conditions Eligibility Criteria ........................................................................................................................ 19 Cardiovascular disorders (10950) .................................................................................................................................. 19 Arteriopathies (33332) ............................................................................................................................................. 19 Familial cerebral small vessel disease (36469) ......................................................................................... 19 Familial Hypercholesterolaemia (33666) ................................................................................................... 21 Severe hypertriglyceridaemia (42185) ...................................................................................................... 23 Connective Tissues Disorders and Aortopathies (10951) ....................................................................................... 25 Familial Thoracic Aortic Aneurysm Disease (11021) ............................................................................... 25 Cardiac arrhythmia (10952) ..................................................................................................................................... 27 Brugada syndrome (11022) .......................................................................................................................... 27 Long QT syndrome (11023) ........................................................................................................................... 29 Catecholaminergic Polymorphic Ventricular Tachycardia (11024) ................................................. 31 Unexplained sudden death in the young (38566) ................................................................................. 33 Idiopathic ventricular fibrillation (42161) ................................................................................................... 35 Cardiomyopathy (10953) ......................................................................................................................................... 37 Arrhythmogenic Right Ventricular Cardiomyopathy (11025) ............................................................. 37 Left Ventricular Noncompaction Cardiomyopathy (15044) ............................................................... 39 Dilated Cardiomyopathy (31340) ............................................................................................................... 41 Dilated Cardiomyopathy and conduction defects (11027) ............................................................... 43 Hypertrophic Cardiomyopathy (11028) .................................................................................................... 45 Congenital heart disease (10954) ........................................................................................................................... 47 Familial congenital heart disease (42212) ................................................................................................ 47 Syndromic congenital heart disease (42213) .......................................................................................... 49 Lymphatic disorders (33334) ................................................................................................................................... 50 RARE DISEASE CONDITIONS ELIGIBILITY CRITERIA | v1.6.0 2 Meige disease (34328) ................................................................................................................................... 50 Milroy disease (37604) .................................................................................................................................... 52 Lymphoedema distichiasis (37612) ............................................................................................................. 53 Ciliopathies (10963) ...................................................................................................................................................... 54 Congenital malformations caused by ciliopathies (15091) .................................................................................... 54 Bardet-Biedl Syndrome (11046) ................................................................................................................... 54 Joubert syndrome (36478) ............................................................................................................................ 56 Rare multisystem ciliopathy disorders (36488) ......................................................................................... 57 Respiratory ciliopathies (15092) .............................................................................................................................. 59 Primary ciliary dyskinesia (11047)................................................................................................................. 59 Non-CF bronchiectasis (11048) .................................................................................................................... 61 Dermatological disorders (10956) ................................................................................................................................. 63 Atopy (15084) ........................................................................................................................................................... 63 Severe multi-system atopic disease with high IgE (15085) ................................................................... 63 Autoimmune skin disorders (33336) ....................................................................................................................... 65 Generalised pustular psoriasis (33646) ....................................................................................................... 65 Ectodermal dysplasias (33338)................................................................................................................................ 66 Ectodermal dysplasia without a known gene mutation (33699) ....................................................... 66 Ichthyoses (33340) .................................................................................................................................................. 67 Autosomal recessive congenital ichthyosis (33700) .............................................................................. 67 Keratodermas (33342) ............................................................................................................................................. 69 Palmoplantar keratoderma and erythrokeratodermas (33701) ........................................................ 69 Familial disseminated superficial actinic porokeratosis (37644) ......................................................... 71 Neurocutaneous disorders (33344) ........................................................................................................................ 72 Undiagnosed neurocutaneous disorders (33686) .................................................................................. 72 Skin adnexa disorders (36587) ................................................................................................................................ 74 Familial cicatricial alopecia (36588) .........................................................................................................