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 (S-U)
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SCID (16 genes)
Gene Condition ADA Severe combined immunodeficiency due to ADA deficiency IL2RG SCID X-Linked JAK3 JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation IL7R Immunodeficiency 104, severe combined PTPRC Immunodeficiency 105, severe combined RAG1 RAG1 related severe combined immunodeficiency, B cell-negative RAG2 RAG2 related severe combined immunodeficiency, B cell-negative DCLRE1C Severe combined immunodeficiency with sensitivity to ionising radiation CD3D Immunodeficiency 19, severe combined CD3E Immunodeficiency 18 CD3G Immunodeficiency 17, CD3 gamma deficient CD247 Immunodeficiency 25, severe combined AK2 Reticular Dysgenesis CORO1A Immunodeficiency 8 ZAP70 Immunodeficiency 48, severe combined -
SCOT deficiency (1 gene)
Gene Condition OXCT1 Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency -
Shwachman-Diamond syndrome (4 genes)
Gene Condition SBDS Shwachman-Diamond syndrome 1 EFL1 Shwachman-Diamond syndrome 2 DNAJC21 DNAJC21 related Shwachman-Diamond syndrome SRP54 SRP54 related Shwachman-Diamond syndrome -
Sickle Cell Disease (1 gene)
Gene Condition HBB Sickle Cell Disease -
Specific complement deficiency (11 genes)
Gene Condition CFH Complement factor H deficiency Autosomal recessive CFI Complement factor I deficiency C3 C3 deficiency C2 C2 deficiency C5 C5 deficiency C7 C7 deficiency C8A C8 deficiency, type I C8B C8 deficiency, type II C6 C6 deficiency C9 C9 deficiency CFD Complement factor D deficiency -
Specific granule deficiency (2 genes)
Gene Condition SMARCD2 Specific granule deficiency 2 CEBPE Specific granule deficiency 1 -
Spinal muscular atrophy (1 gene)
Gene Condition SMN1 Spinal Muscular Atrophy -
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (1 gene)
Gene Condition SLC19A3 Sodium-dependent multivitamin transporter deficiency -
Thiamine metabolism dysfunction syndrome 5 (1 gene)
Gene Condition TPK1 Thiamine Pyrophosphokinase Deficiency -
Thyroid hormone resistance (2 genes)
Gene Condition THRB Thyroid hormone resistance, autosomal dominant THRB Thyroid hormone resistance, autosomal recessive -
Transcobalamin II deficiency (1 gene)
Gene Condition TCN2 Transcobalamin II deficiency -
Trichohepatoenteric syndrome (2 genes)
Gene Condition SKIC3 Trichohepatoenteric syndrome 1 SKIC2 Trichohepatoenteric syndrome 2 -
Trifunctional protein deficiency (1 gene)
Gene Condition HADHB Mitochondrial trifunctional protein deficiency 2 -
Tyrosinaemia, type I (1 gene)
Gene Condition FAH Tyrosinemia, type I -
Tyrosinaemia, type II (1 gene)
Gene Condition TAT Tyrosinemia, type II -
Uridine-responsive epileptic encephalopathy (1 gene)
Gene Condition CAD Uridine-responsive epileptic encephalopathy