Conditions
The Generation Study will be testing babies for changes in genes linked to more than 200 rare genetic conditions.
These all meet a set of four principles that have guided our approach to choosing conditions. Find out more about our process.
As we learn more from the study and respond to emerging evidence and research, the list of conditions and gene changes we test for may change. Babies in the Generation Study will be tested for the conditions listed at the time they joined the study and will not be re-analysed if this list changes.
This list includes more than 200 individual conditions caused by genetic changes in around 500 different genes. The latest full list of conditions is provided in alphabetical order below.
Current list publication date: February 2025
Since early 2024, we have been reaching out to specialty clinical groups and patient organisations to consider any conditions that may require review or that have not been previously considered for inclusion in the study. These would need to meet our study’s four principles and follow the same approval process.
If you have any questions about the conditions tested in the study or wish to view previous versions of the list, please contact us via our Service Desk.
Conditions (P-R)
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PAH-related disorder (1 gene)
Gene Condition PAH PAH-related disorder -
POMC deficiency (1 gene)
Gene Condition POMC Obesity, adrenal insufficiency, and red hair due to POMC deficiency -
PSTPIP1 related inflammatory disease (1 gene)
Gene Condition PSTPIP1 PSTPIP1 associated inflammatory disease -
Paget disease of bone (1 gene)
Gene Condition TNFRSF11B Paget disease of bone 5, juvenile-onset -
Pancreatic agenesis (1 gene)
Gene Condition PTF1A Pancreatic agenesis 2 -
Periodic fever syndrome (1 gene)
Gene Condition NLRP3 Cryopyrin associated periodic fever syndrome -
Persistent Mullerian duct syndrome (2 genes)
Gene Condition AMH Persistent Mullerian duct syndrome, type I AMHR2 Persistent Mullerian duct syndrome, type II -
Phosphoenolpyruvate carboxykinase deficiency, cytosolic (1 gene)
Gene Condition PCK1 Phosphoenolpyruvate carboxykinase deficiency, cytosolic -
Pigmentary disorder, reticulate, with systemic manifestations, X-linked (1 gene)
Gene Condition POLA1 Pigmentary disorder, reticulate, with systemic manifestations, X-linked -
Primary Ciliary Dyskinesia (36 genes)
Gene Condition DNAH5 Primary Ciliary Dyskinesia 3 CCDC39 Primary Ciliary Dyskinesia 14 DNAH11 Primary Ciliary Dyskinesia 15 CCDC40 Primary Ciliary Dyskinesia 7 DNAI1 Primary Ciliary Dyskinesia 1 SPAG1 Primary Ciliary Dyskinesia 28 ODAD2 Ciliary dyskinesia, primary, 23 CCDC103 Ciliary dyskinesia, primary, 17 ODAD3 Ciliary dyskinesia, primary, 30 CCNO primary ciliary dyskinesia 29 CFAP300 ciliary dyskinesia, primary, 38 DNAAF3 primary ciliary dyskinesia 2 DNAI2 primary ciliary dyskinesia 9 FOXJ1 ciliary dyskinesia, primary, 43 HYDIN primary ciliary dyskinesia 5 MCIDAS ciliary dyskinesia, primary, 42 ODAD1 primary ciliary dyskinesia 20 ODAD4 primary ciliary dyskinesia 35 RSPH1 primary ciliary dyskinesia 24 RSPH3 Ciliary dyskinesia, primary, 32 RSPH4A primary ciliary dyskinesia 11 RSPH9 Ciliary dyskinesia, primary, 12 ZMYND10 primary ciliary dyskinesia 22 CFAP298 Ciliary dyskinesia, primary, 26 CCDC65 Ciliary dyskinesia, primary, 27 DNAAF1 Ciliary dyskinesia, primary, 13 DNAAF11 Ciliary dyskinesia, primary, 19 DNAAF2 Ciliary dyskinesia, primary, 10 DNAAF4 Ciliary dyskinesia, primary, 25 DNAAF5 Ciliary dyskinesia, primary, 18 DNAH9 Ciliary dyskinesia, primary, 40 DRC1 Ciliary dyskinesia, primary, 21 GAS8 Ciliary dyskinesia, primary, 33 DNAAF6 Ciliary dyskinesia, primary, 36, X-linked DNAL1 Ciliary dyskinesia, primary, 16 LRRC56 Ciliary dyskinesia, primary, 39 -
Primary coenzyme Q10 deficiency (10 genes)
Gene Condition COQ4 COQ4 related primary coenzyme Q10 deficiency COQ8B COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome COQ2 COQ2 related primary coenzyme Q10 deficiency COQ6 COQ6 related primary coenzyme Q10 deficiency COQ5 COQ5 related primary coenzyme Q10 deficiency COQ7 Coenzyme Q10 deficiency, primary, 8 COQ8A Coenzyme Q10 deficiency, primary, 4 COQ9 Coenzyme Q10 deficiency, primary, 5 PDSS1 Coenzyme Q10 deficiency, primary, 2 PDSS2 Coenzyme Q10 deficiency, primary, 3 -
Primary hyperoxaluria type I (1 gene)
Gene Condition AGXT Hyperoxaluria, primary, type 1 -
Primary hyperoxaluria type II (1 gene)
Gene Condition GRHPR Hyperoxaluria, primary, type II -
Primary hyperoxaluria type III (1 gene)
Gene Condition HOGA1 Hyperoxaluria, primary, type III -
Primary systemic carnitine deficiency (1 gene)
Gene Condition SLC22A5 Primary systemic carnitine deficiency -
Progressive familial intrahepatic cholestasis (6 genes)
Gene Condition ABCB11 Cholestasis, progressive familial intrahepatic 2 ABCB4 Cholestasis, progressive familial intrahepatic 3 ATP8B1 Cholestasis, progressive familial intrahepatic 1 TJP2 Cholestasis, progressive familial intrahepatic 4 USP53 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss ZFYVE19 Cholestasis, progressive familial intrahepatic, 9 -
Properdin deficiency (1 gene)
Gene Condition CFP Properdin deficiency, X-linked -
Propionic acidaemia (2 genes)
Gene Condition PCCA Propionic acidemia 1 PCCB Propionic acidemia 2 -
Proprotein Convertase Deficiency (1 gene)
Gene Condition PCSK1 Endocrinopathy due to proprotein convertase 1/3 deficiency -
Pseudohypoaldosteronism (8 genes)
Gene Condition SCNN1A SCNN1A related pseudohypoaldosteronism Type 1A SCNN1B SCNN1B related pseudohypoaldosteronism Type 1A SCNN1G SCNN1G related pseudohypoaldosteronism Type 1A NR3C2 Pseudohypoaldosteronism type I, autosomal dominant WNK1 Pseudohypoaldosteronism, type IIC KLHL3 Pseudohypoaldosteronism, type IID, autosomal recessive KLHL3 Pseudohypoaldosteronism, type IID, autosomal dominant CUL3 Pseudohypoaldosteronism, type IIE -
Pyridoxamine 5-prime-phosphate oxidase deficiency (1 gene)
Gene Condition PNPO Pyridoxamine 5-phosphate oxidase deficiency -
Pyridoxine dependent epilepsy (1 gene)
Gene Condition ALDH7A1 Pyridoxine dependent epilepsy -
Pyruvate dehydrogenase E1-alpha deficiency (1 gene)
Gene Condition PDHA1 Pyruvate dehydrogenase E1-alpha deficiency -
Pyruvate kinase deficiency (1 gene)
Gene Condition PKLR Pyruvate kinase deficiency -
ROSAH syndrome (1 gene)
Gene Condition ALPK1 ROSAH syndrome -
RPE65 related Leber congenital amaurosis/early-onset severe retinal dystrophy (1 gene)
Gene Condition RPE65 RPE65 associated Leber congenital amaurosis , early-onset severe retinal dystrophy -
Resistance to thyroid hormone alpha (1 gene)
Gene Condition THRA Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) -
Riboflavin transporter deficiency (2 genes)
Gene Condition SLC52A3 Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1) SLC52A2 Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 2)