Conditions list

This initial list is provisional. We are continuing to work with the NHS to ensure availability of treatments for these conditions, and working to make sure that the sequencing technology used in the study can identify changes in the genes causing these conditions.
This list may be subject to further change during the study with conditions being added or removed in response to emerging research and evidence. Any changes made will be highlighted in an amended published list.
This list published on 2 October 2023 includes 223 individual conditions caused by genetic changes in over 500 different genes. The full list of conditions is provided in alphabetical order below.
Conditions A-C
Condition group |
Gene |
Condition name (OMIM) |
17-alpha-hydroxylase/17,20-lyase deficiency |
CYP17A1 |
17-alpha-hydroxylase/17,20-lyase deficiency |
Abetalipoproteinemia |
MTTP |
Abetalipoproteinemia |
Achalasia-addisonianism-alacrimia syndrome |
AAAS |
Achalasia-addisonianism-alacrimia syndrome |
Acrodermatitis enteropathica |
SLC39A4 |
Acrodermatitis enteropathica |
Adenine phosphoribosyltransferase deficiency |
APRT |
Adenine phosphoribosyltransferase deficiency |
Adrenocorticotropic hormone deficiency |
TBX19 |
Adrenocorticotropic hormone deficiency |
Adrenoleukodystrophy |
ABCD1 |
Adrenoleukodystrophy |
Afibrinogenaemia |
FGA |
Afibrinogenemia, congenital |
Afibrinogenaemia |
FGB |
Afibrinogenemia, congenital |
Afibrinogenaemia |
FGG |
Afibrinogenemia, congenital |
Agammaglobulinemia |
BTK |
X-linked agammaglobulinemia |
Agammaglobulinemia |
IGHM |
Agammaglobulinemia 1 |
Agammaglobulinemia |
IGLL1 |
Agammaglobulinemia 2 |
Agammaglobulinemia |
CD79A |
Agammaglobulinemia 3 |
Agammaglobulinemia |
CD79B |
Agammaglobulinemia 6 |
Agammaglobulinemia |
BLNK |
Agammaglobulinemia 4 |
Agammaglobulinemia |
PIK3R1 |
Agammaglobulinemia 7 |
Agammaglobulinemia |
TCF3 |
Agammaglobulinemia 8 |
Agammaglobulinemia |
TCF3 |
Agammaglobulinemia 8 |
Agammaglobulinemia |
SLC39A7 |
SLC39A7 associated agammaglobulinemia |
Allan-Herndon-Dudley syndrome |
SLC16A2 |
Allan-Herndon-Dudley syndrome |
Apparent mineralocorticoid excess |
HSD11B2 |
Apparent mineralocorticoid excess |
Argininemia |
ARG1 |
Argininemia |
Argininosuccinic aciduria |
ASL |
Argininosuccinic aciduria |
Aromatic amino acid decarboxylase deficiency |
DDC |
Aromatic amino acid decarboxylase deficiency |
Ataxia pancytopenia syndrome |
SAMD9L |
Ataxia pancytopenia syndrome |
Ataxia with vitamin E deficiency |
TTPA |
Ataxia with vitamin E deficiency |
Atransferrinaemia |
TF |
Atransferrinaemia |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia |
AIRE |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia |
Autoinflammation, panniculitis, and dermatosis syndrome |
OTULIN |
Autoinflammation, panniculitis, and dermatosis syndrome |
Bamforth-Lazarus syndrome |
FOXE1 |
Bamforth-Lazarus syndrome |
Bare lymphocyte syndrome |
CIITA |
Bare lymphocyte syndrome, type II, complementation group A |
Bare lymphocyte syndrome |
RFXANK |
Bare lymphocyte syndrome, type II, complementation group B |
Bare lymphocyte syndrome |
RFX5 |
Bare lymphocyte syndrome, type II, complementation group C |
Bare lymphocyte syndrome |
RFXAP |
Bare lymphocyte syndrome, type II, complementation group D |
Barth Syndrome |
TAFAZZIN |
Barth Syndrome |
Bartter syndrome |
SLC12A1 |
Bartter syndrome, type 1 |
Bartter syndrome |
KCNJ1 |
Bartter syndrome, type 2 |
Bartter syndrome |
MAGED2 |
Bartter syndrome, type 5, antenatal, transient |
Bernard-Soulier syndrome |
GP1BA |
Bernard-Soulier syndrome, type A1 (recessive) |
Bernard-Soulier syndrome |
GP1BB |
Bernard-Soulier syndrome, type B |
Bernard-Soulier syndrome |
GP9 |
Bernard-Soulier syndrome, type C |
Beta Thalassaemia |
HBB |
Beta Thalassaemia |
Bile acid conjugation defect |
BAAT |
Bile acid conjugation defect 1 |
Biotinidase deficiency |
BTD |
Biotinidase deficiency |
Bone marrow failure syndrome |
DNAJC21 |
Bone marrow failure syndrome 3 |
Branched-chain ketoacid dehydrogenase kinase deficiency |
BCKDK |
Branched-chain ketoacid dehydrogenase kinase deficiency |
Brown-Vialetto-Van Laere syndrome |
SLC52A3 |
Brown-Vialetto-Van Laere syndrome 1 |
Brown-Vialetto-Van Laere syndrome |
SLC52A2 |
Brown-Vialetto-Van Laere syndrome 2 |
Carbamoyl phosphate synthetase I deficiency |
CPS1 |
Carbamoyl phosphate synthetase I deficiency |
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness |
TRDN |
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness |
Carnitine palmitoyltransferase I deficiency |
CPT1A |
Carnitine palmitoyltransferase I deficiency |
Carnitine palmitoyltransferase II deficiency infantile |
CPT2 |
Carnitine palmitoyltransferase II deficiency infantile |
Carnitine-acylcarnitine translocase deficiency |
SLC25A20 |
Carnitine-acylcarnitine translocase deficiency |
Catecholaminergic polymorphic ventricular tachycardia |
TECRL |
Ventricular tachycardia, catecholaminergic polymorphic, 3 |
Catecholaminergic polymorphic ventricular tachycardia |
CASQ2 |
Ventricular tachycardia, catecholaminergic polymorphic, 2 |
Cerebral creatine deficiency syndrome |
GAMT |
Cerebral creatine deficiency syndrome 2 |
Cerebral creatine deficiency syndrome |
GATM |
Cerebral creatine deficiency syndrome 3 |
Cerebrotendinous xanthomatosis |
CYP27A1 |
Cerebrotendinous xanthomatosis |
Chediak-Higashi Syndrome |
LYST |
Chediak-Higashi Syndrome |
Chronic granulomatous disorder |
CYBB |
Chronic granulomatous disease x-linked |
Chronic granulomatous disorder |
CYBA |
Chronic granulomatous disease 4 |
Chronic granulomatous disorder |
NCF2 |
Chronic granulomatous disease 3 |
Chronic granulomatous disorder |
NCF4 |
Chronic granulomatous disease 2 |
Chronic granulomatous disorder |
CYBC1 |
Chronic granulomatous disease 5 |
Chylomicron retention disease |
SAR1B |
Chylomicron retention disease |
Citrullinemia |
ASS1 |
Citrullinemia |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
MTHFD1 |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
Combined pituitary hormone deficiency |
PROP1 |
Combined Pituitary hormone deficiency 2 |
Combined pituitary hormone deficiency |
POU1F1 |
Pituitary hormone deficiency, combined or isolated, 1 |
Combined pituitary hormone deficiency |
POU1F1 |
Pituitary hormone deficiency, combined or isolated, 1 |
Combined pituitary hormone deficiency |
HESX1 |
Pituitary hormone deficiency, combined, 5 |
Combined pituitary hormone deficiency |
LHX3 |
Pituitary hormone deficiency, combined, 3 |
Congenital adrenal hyperplasia |
CYP21A2 |
Congenital adrenal hyperplasia due to 21-hydroxylase defi- ciency |
Congenital adrenal hyperplasia |
CYP11B1 |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
Congenital adrenal hyperplasia |
HSD3B2 |
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
Congenital adrenal hypoplasia |
NR0B1 |
Adrenal hypoplasia, congenital |
Congenital adrenal insufficiency with 46XY sex reversal |
CYP11A1 |
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete |
Congenital bile acid synthesis defect |
HSD3B7 |
Bile acid synthesis defect, congenital, 1 |
Congenital bile acid synthesis defect |
AKR1D1 |
Bile acid synthesis defect, congenital, 2 |
Congenital bile acid synthesis defect |
CYP7B1 |
Bile acid synthesis defect, congenital, 3 |
Congenital bile acid synthesis defect |
AMACR |
Bile acid synthesis defect, congenital, 4 |
Congenital diarrhoea |
DGAT1 |
Diarrhea 7, protein-losing enteropathy type |
Congenital Diarrhoea |
SLC26A3 |
Diarrhea 1, secretory chloride, congenital |
Congenital Diarrhoea |
SLC9A3 |
Diarrhea 8, secretory sodium, congenital |
Congenital Diarrhoea |
EPCAM |
Diarrhea 5, with tufting enteropathy, congenital |
Congenital Diarrhoea |
SPINT2 |
Diarrhea 3, secretory sodium, congenital, syndromic |
Congenital diarrhoea |
NEUROG3 |
Diarrhea 4, malabsorptive, congenital |
Congenital disorder of glycosylation |
MPI |
Congenital disorder of glycosylation, type Ib |
Congenital disorder of glycosylation |
PGM1 |
Congenital disorder of glycosylation, type It |
Congenital erythropoietic porphyria |
UROS |
Congenital erythropoietic porphyria |
Congenital hyperinsulinism |
HADH |
Familial hyperinsulinemic hypoglycemia-4 |
Congenital hyperinsulinism |
HK1 |
HK1 associated hyperinsulinism |
Congenital hyperinsulinism |
PMM2 |
Polycystic kidney disease with hyperinsulinemic hypoglycemia |
Congenital hyperinsulinism |
GCK |
Familial hyperinsulinemic hypoglycemia-3 |
Congenital hyperinsulinism |
ABCC8 |
Hyperinsulinemic hypoglycemia, familial, 1 |
Congenital hyperinsulinism |
KCNJ11 |
Familial hyperinsulinemic hypoglycemia-2 |
Congenital hyperinsulinism |
KCNJ11 |
Familial hyperinsulinemic hypoglycemia-2 |
Congenital hypoaldosteronism |
CYP11B2 |
Hypoaldosteronism, congenital, due to CMO I deficiency |
Congenital hypothyroidism |
DUOX2 |
Thyroid dyshormonogenesis 6 |
Congenital hypothyroidism |
DUOXA2 |
Thyroid dyshormonogenesis 5 |
Congenital hypothyroidism |
TPO |
Thyroid dyshormonogenesis 2A |
Congenital hypothyroidism |
TG |
Thyroid dyshormonogenesis 3 |
Congenital hypothyroidism |
SLC5A5 |
Thyroid dyshormonigenesis 1 |
Congenital hypothyroidism |
SLC26A7 |
Thyroid dyshormonigenesis (no phenotype on OMIM) |
Congenital hypothyroidism |
TSHR |
Hypothyroidism, congenital, nongoitrous, 1 |
Congenital hypothyroidism |
TRHR |
Hypothyroidism, congenital, nongoitrous, 7 |
Congenital hypothyroidism |
PAX8 |
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
Congenital hypothyroidism |
IYD |
Thyroid dyshormonogenesis 4 |
Congenital hypothyroidism |
IGSF1 |
Hypothyroidism, central, and testicular enlargement |
Congenital hypothyroidism |
TBL1X |
Hypothyroidism, congenital, nongoitrous, 8 |
Congenital hypothyroidism |
IRS4 |
Hypothyroidism, congenital, nongoitrous, 9 |
Congenital hypothyroidism |
TSHB |
Hypothyroidism, congenital, nongoitrous 4 |
Congenital lipodystrophy |
AGPAT2 |
Congenital generalized lipodystrophy type 1 |
Congenital lipodystrophy |
BSCL2 |
Lipodystrophy, congenital generalized, type 2 |
Congenital lipodystrophy |
CAV1 |
Lipodystrophy, congenital generalized, type 3 |
Congenital lipodystrophy |
CAV1 |
Lipodystrophy, familial partial, type 7 |
Congenital lipodystrophy |
CAVIN1 |
Lipodystrophy, congenital generalized, type 4 |
Congenital Myasthenic Syndrome |
CHRNE |
Myasthenic syndrome, congenital, 4 |
Congenital Myasthenic Syndrome |
CHRNE |
Myasthenic syndrome, congenital, 4 |
Congenital Myasthenic Syndrome |
AGRN |
Myasthenic syndrome, congenital, 8, with pre- and postsyn- aptic defects |
Congenital Myasthenic Syndrome |
ALG14 |
Myasthenic syndrome, congenital, 15, without tubular aggre- gates |
Congenital Myasthenic Syndrome |
SYT2 |
Congenital myasthenic syndrome 7 |
Congenital Myasthenic Syndrome |
SYT2 |
Congenital myasthenic syndrome 7 |
Congenital Myasthenic Syndrome |
CHAT |
Congenital myasthenic syndrome-6 |
Congenital Myasthenic Syndrome |
CHRNA1 |
Congenital myasthenic syndrome-1 |
Congenital Myasthenic Syndrome |
CHRNA1 |
Congenital myasthenic syndrome-1 |
Congenital Myasthenic Syndrome |
CHRNB1 |
Congenital myasthenic syndrome-2 |
Congenital Myasthenic Syndrome |
CHRNB1 |
Congenital myasthenic syndrome-2 |
Congenital Myasthenic Syndrome |
CHRND |
Congenital myasthenic syndrome-3 |
Congenital Myasthenic Syndrome |
CHRND |
Congenital myasthenic syndrome-3 |
Congenital Myasthenic Syndrome |
COL13A1 |
Congenital myasthenic syndrome-19 |
Congenital Myasthenic Syndrome |
COLQ |
Congenital myasthenic syndrome-5 |
Congenital Myasthenic Syndrome |
DOK7 |
Congenital myasthenic syndrome-10 |
Congenital Myasthenic Syndrome |
DPAGT1 |
Congenital myasthenic syndrome-13 |
Congenital Myasthenic Syndrome |
ALG2 |
Congenital myasthenic syndrome-14 |
Congenital Myasthenic Syndrome |
GFPT1 |
Congenital myasthenic syndrome-12 |
Congenital Myasthenic Syndrome |
MUSK |
Congenital myasthenic syndrome-9 |
Congenital Myasthenic Syndrome |
MYO9A |
Congenital myasthenic syndrome-24 |
Congenital Myasthenic Syndrome |
PREPL |
Congenital myasthenic syndrome-22 |
Congenital Myasthenic Syndrome |
RAPSN |
Congenital myasthenic syndrome-11 |
Congenital Myasthenic Syndrome |
SLC18A3 |
Congenital myasthenic syndrome-21 |
Congenital Myasthenic Syndrome |
SLC25A1 |
Congenital myasthenic syndrome-23 |
Congenital Myasthenic Syndrome |
SLC5A7 |
Congenital myasthenic syndrome-20 |
Congenital Myasthenic Syndrome |
VAMP1 |
Congenital myasthenic syndrome-25 |
Congenital Myasthenic Syndrome |
SCN4A |
Congenital myasthenic syndrome-16 |
Congenital prothrombin deficiency |
F2 |
Congenital Prothrombin deficiency |
Congenital sucrase-isomaltase deficiency |
SI |
Congenital sucrase-isomaltase deficiency |
Crigler-Najjar syndrome Type I |
UGT1A1 |
Crigler-Najjar syndrome Type I |
Cryopyrin associated periodic fever syndrome |
NLRP3 |
Cryopyrin associated periodic fever syndrome |
Cystic fibrosis |
CFTR |
Cystic fibrosis |
Cystinosis |
CTNS |
Cystinosis, nephropathic |
cytochrome P450 oxidoreductase deficiency |
POR |
cytochrome P450 oxidoreductase deficiency |