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 (M-O)
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MIRAGE syndrome (1 gene)
Gene Condition SAMD9 MIRAGE syndrome -
Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation (1 gene)
Gene Condition MPI Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation -
Maple Syrup Urine Disease (3 genes)
Gene Condition BCKDHA Maple syrup urine disease, type Ia BCKDHB Maple syrup urine disease, type Ib DBT Maple syrup urine disease, type II -
Medium-chain acyl-CoA dehydrogenase deficiency (1 gene)
Gene Condition ACADM Medium-chain acyl-CoA dehydrogenase deficiency -
Megaloblastic anaemia (3 genes)
Gene Condition SLC19A1 Folate dependent megaloblastic anaemia SLC19A2 Thiamine Repsonsive Megaloblastic Anaemia Syndrome DHFR Megaloblastic anaemia due to dihydrofolate reductase deficiency -
Metachromatic leukodystrophy (1 gene)
Gene Condition ARSA Metachromatic leukodystrophy -
Methylenetetrahydrofolate Reductase Deficiency (1 gene)
Gene Condition MTHFR Homocystinuria due to MTHFR deficiency -
Methylmalonic acidaemia and homocystinuria (4 genes)
Gene Condition MMACHC Methylmalonic aciduria and homocystinuria, cblC type MMADHC Methylmalonic aciduria and homocystinuria, cblD type LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type -
Mild non-BH4-deficient hyperphenylalaninemia (1 gene)
Gene Condition DNAJC12 Mild non-BH4-deficient hyperphenylalaninemia -
Mitochondrial complex I deficiency, nuclear type 20 (1 gene)
Gene Condition ACAD9 Mitochondrial complex I deficiency, nuclear type 20 -
Mucopolysaccharidosis Type I (1 gene)
Gene Condition IDUA Mucopolysaccharidosis Type I -
Mucopolysaccharidosis Type II (1 gene)
Gene Condition IDS Mucopolysaccharidosis Type II -
Mucopolysaccharidosis Type IVA (1 gene)
Gene Condition GALNS Mucopolysaccharidosis Type IVA -
Mucopolysaccharidosis Type VI (1 gene)
Gene Condition ARSB Mucopolysaccharidosis Type VI -
Mucopolysaccharidosis Type VII (1 gene)
Gene Condition GUSB Mucopolysaccharidosis type VII -
Multiple Acyl-CoA Dehydrogenase Deficiency (3 genes)
Gene Condition ETFB Glutaric acidaemia type IIB ETFDH Glutaric acidaemia type IIC ETFA Glutaric acidaemia type IIA -
Multiple endocrine neoplasia II (1 gene)
Gene Condition RET Multiple endocrine neoplasia II -
Myoglobinuria (1 gene)
Gene Condition LPIN1 Myoglobinuria, acute recurrent -
N-acetylglutamate synthase deficiency (1 gene)
Gene Condition NAGS N-acetylglutamate synthase deficiency -
NR5A1 related adrenocortical insufficiency (2 genes)
Gene Condition NR5A1 NR5A1 associated adrenocortical insufficiency autosomal dominant NR5A1 NR5A1 associated adrenocortical insufficiency autosomal recessive -
Neonatal diabetes (7 genes)
Gene Condition ABCC8 Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal recessive KCNJ11 Diabetes, permanent neonatal 2, with or without neurologic features GCK Diabetes mellitus, permanent neonatal 1 INS Autosomal dominant diabetes mellitus, permanent neonatal 4 INS Autosomal recessive diabetes mellitus, permanent neonatal 4 GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism NEUROD1 NEUROD1 related autosomal recessive neonatal diabetes -
Neonatal hyperparathyroidism (2 genes)
Gene Condition CASR Neonatal hyperparathyroidism, Autosomal Recessive CASR Neonatal hyperparathyroidism, Autosomal Dominant -
Nephrotic syndrome with or without adrenal insufficency (1 gene)
Gene Condition SGPL1 Nephrotic syndrome, type 14 -
Neurodegeneration due to cerebral folate transport deficiency (1 gene)
Gene Condition FOLR1 Neurodegeneration due to cerebral folate transport deficiency -
New Entry (4 genes)
Gene Condition SH2D1A X-Linked Lymphoproliferative Syndrome 1 XIAP X-Linked inhibitor of apoptosis protein ITK Lymphoproliferative syndrome 1 CD70 Lymphoproliferative syndrome 3 -
Nijmegen breakage syndrome (1 gene)
Gene Condition NBN Nijmegen breakage syndrome -
OAS1 associated polymorphic autoinflammatory immunodeficiency (1 gene)
Gene Condition OAS1 OAS1 related polymorphic autoinflammatory immunodeficiency -
OTOF related deafness (1 gene)
Gene Condition OTOF Auditory neuropathy, autosomal recessive, 1 -
Ornithine transcarbamylase deficiency (1 gene)
Gene Condition OTC Ornithine transcarbamylase deficiency -
Orotic aciduria (1 gene)
Gene Condition UMPS Orotic aciduria -
Osteogenesis Imperfecta (12 genes)
Gene Condition COL1A1 COL1A1 related Osteogenesis Imperfecta COL1A2 COL1A2 related Osteogenesis Imperfecta IFITM5 Osteogenesis Imperfecta type V BMP1 Osteogenesis imperfecta, type XIII FKBP10 Osteogenesis imperfecta, type XI KDELR2 Osteogenesis imperfecta, type XXI MESD Osteogenesis imperfecta, type XX SERPINF1 Osteogenesis imperfecta, type VI SERPINH1 Osteogenesis imperfecta, type X SPARC Osteogenesis imperfecta, type XVII TMEM38B Osteogenesis imperfecta, type XIV WNT1 Osteogenesis imperfecta, type XV -
Osteopetrosis (6 genes)
Gene Condition TCIRG1 Osteopetrosis type 1 CLCN7 Osteopetrosis type 4, autosomal recessive CLCN7 Osteopetrosis type 4, autosomal dominant TNFRSF11A Osteopetrosis type 7 SNX10 Osteopetrosis type 8 CA2 Osteopetrosis with renal tubular acidosis -
Osteoporosis-pseudoglioma syndrome (1 gene)
Gene Condition LRP5 Osteoporosis-pseudoglioma syndrome -
Otofaciocervical syndrome (1 gene)
Gene Condition PAX1 Otofaciocervical syndrome 2