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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 list - May 2026 (XLSX, 43KB)

Conditions (A-C)

  1. Abetalipoproteinaemia (1 gene)
    Gene Condition
    MTTP Abetalipoproteinaemia
  2. Achalasia-addisonianism-alacrimia syndrome (1 gene)
    Gene Condition
    AAAS Achalasia-addisonianism-alacrimia syndrome
  3. Acrodermatitis enteropathica (1 gene)
    Gene Condition
    SLC39A4 Acrodermatitis enteropathica
  4. Adenine phosphoribosyltransferase deficiency (1 gene)
    Gene Condition
    APRT Adenine phosphoribosyltransferase deficiency
  5. Adenosine deaminase 2 deficiency (1 gene)
    Gene Condition
    ADA2 Deficiency of ADA2 (DADA2)
  6. Adrenocorticotropic hormone deficiency (1 gene)
    Gene Condition
    TBX19 Adrenocorticotropic hormone deficiency
  7. Adrenoleukodystrophy (1 gene)
    Gene Condition
    ABCD1 Adrenoleukodystrophy
  8. Afibrinogenaemia (3 genes)
    Gene Condition
    FGA FGA related afibrinogenaemia
    FGB FGB related afibrinogenaemia
    FGG FGG related afibrinogenaemia
  9. Agammaglobulinaemia (10 genes)
    Gene Condition
    BTK X-linked Agammaglobulinaemia
    IGHM Agammaglobulinaemia 1
    IGLL1 Agammaglobulinaemia 2
    CD79A Agammaglobulinaemia 3
    CD79B Agammaglobulinaemia 6
    BLNK Agammaglobulinaemia 4
    PIK3R1 Agammaglobulinaemia 7
    TCF3 Agammaglobulinaemia 8, autosomal recessive
    TCF3 Agammaglobulinaemia 8, autosomal dominant
    SLC39A7 SLC39A7 associated Agammaglobulinaemia
  10. Alpha-mannosidosis (1 gene)
    Gene Condition
    MAN2B1 Alpha-mannosidosis
  11. Alpha-methylacetoacetic aciduria (1 gene)
    Gene Condition
    ACAT1 Alpha-methylacetoacetic aciduria
  12. Alport syndrome (3 genes)
    Gene Condition
    COL4A5 COL4A5 related X-linked Alport syndrome
    COL4A4 COL4A4 related autosomal recessive Alport syndrome
    COL4A3 COL4A3 related autosomal recessive Alport syndrome
  13. Apparent mineralocorticoid excess (1 gene)
    Gene Condition
    HSD11B2 Apparent mineralocorticoid excess
  14. Arginase deficiency (1 gene)
    Gene Condition
    ARG1 Argininaemia
  15. Argininosuccinic aciduria (1 gene)
    Gene Condition
    ASL Argininosuccinic aciduria
  16. Aromatic L-amino acid decarboxylase deficiency (1 gene)
    Gene Condition
    DDC Aromatic L-amino acid decarboxylase deficiency
  17. Asplenia, isolated congenital (1 gene)
    Gene Condition
    RPSA Asplenia, isolated congenital
  18. Ataxia with vitamin E deficiency (1 gene)
    Gene Condition
    TTPA Ataxia with vitamin E deficiency
  19. Atransferrinaemia (1 gene)
    Gene Condition
    TF Atransferrinaemia
  20. Autoimmune disease, multisystem, with facial dysmorphism (1 gene)
    Gene Condition
    ITCH Autoimmune disease, multisystem, with facial dysmorphism
  21. Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia (1 gene)
    Gene Condition
    AIRE Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia
  22. Bamforth-Lazarus syndrome (1 gene)
    Gene Condition
    FOXE1 Bamforth-Lazarus syndrome
  23. Bare lymphocyte syndrome (7 genes)
    Gene Condition
    CIITA Bare lymphocyte syndrome, type II, complementation group A
    RFXANK Bare lymphocyte syndrome, type II, complementation group B
    RFX5 Bare lymphocyte syndrome, type II, complementation group C
    RFXAP Bare lymphocyte syndrome, type II, complementation group D
    TAP1 TAP1 related bare lymphocyte syndrome
    TAP2 TAP2 related bare lymphocyte syndrome
    TAPBP MHC class I deficiency 3
  24. Barth Syndrome (1 gene)
    Gene Condition
    TAFAZZIN Barth Syndrome
  25. Bartter syndrome (2 genes)
    Gene Condition
    SLC12A1 Bartter syndrome, type 1
    KCNJ1 Bartter syndrome, type 2
  26. Bernard-Soulier syndrome (3 genes)
    Gene Condition
    GP1BA Bernard-Soulier syndrome, type A1 (recessive)
    GP1BB Bernard-Soulier syndrome, type B
    GP9 Bernard-Soulier syndrome, type C
  27. Beta Thalassaemia (1 gene)
    Gene Condition
    HBB Beta Thalassaemia
  28. Bile acid conjugation defect (1 gene)
    Gene Condition
    BAAT Bile acid conjugation defect 1
  29. Biotinidase deficiency (1 gene)
    Gene Condition
    BTD Biotinidase deficiency
  30. Bone marrow failure syndrome (1 gene)
    Gene Condition
    MYSM1 Bone marrow failure syndrome 4
  31. Branched-chain ketoacid dehydrogenase kinase deficiency (1 gene)
    Gene Condition
    BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency
  32. Bruck Syndrome (1 gene)
    Gene Condition
    PLOD2 Bruck Syndrome 2
  33. Carbamoyl phosphate synthetase I deficiency (1 gene)
    Gene Condition
    CPS1 Carbamoyl phosphate synthetase I deficiency
  34. Carnitine palmitoyltransferase I deficiency (1 gene)
    Gene Condition
    CPT1A Carnitine palmitoyltransferase I deficiency
  35. Carnitine palmitoyltransferase II deficiency infantile (1 gene)
    Gene Condition
    CPT2 Carnitine palmitoyltransferase II deficiency infantile
  36. Carnitine-acylcarnitine translocase deficiency (1 gene)
    Gene Condition
    SLC25A20 Carnitine-acylcarnitine translocase deficiency
  37. Cerebral creatine deficiency syndrome (2 genes)
    Gene Condition
    GAMT Cerebral creatine deficiency syndrome 2
    GATM Cerebral creatine deficiency syndrome 3
  38. Cerebrotendinous xanthomatosis (1 gene)
    Gene Condition
    CYP27A1 Cerebrotendinous xanthomatosis
  39. Chediak-Higashi Syndrome (1 gene)
    Gene Condition
    LYST Chediak-Higashi Syndrome
  40. Chronic granulomatous disorder (5 genes)
    Gene Condition
    CYBB Chronic granulomatous disease x-linked
    CYBA Chronic granulomatous disease 4
    NCF2 Chronic granulomatous disease 3
    NCF4 Chronic granulomatous disease 2
    CYBC1 Chronic granulomatous disease 5
  41. Chylomicron retention disease (1 gene)
    Gene Condition
    SAR1B Chylomicron retention disease
  42. Citrin deficiency (1 gene)
    Gene Condition
    SLC25A13 Citrullinemia, type II, neonatal-onset
  43. Citrullinaemia (1 gene)
    Gene Condition
    ASS1 Citrullinaemia
  44. Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia (1 gene)
    Gene Condition
    MTHFD1 Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia
  45. Combined pituitary hormone deficiency (5 genes)
    Gene Condition
    PROP1 Combined Pituitary hormone deficiency 2
    POU1F1 Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant
    POU1F1 Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive
    HESX1 Pituitary hormone deficiency, combined, 5
    LHX3 Pituitary hormone deficiency, combined, 3
  46. Congenital Diarrhoea (2 genes)
    Gene Condition
    DGAT1 Diarrhoea 7, protein-losing enteropathy type
    NEUROG3 Diarrhoea 4, malabsorptive, congenital
  47. Congenital Myasthenic Syndrome (26 genes)
    Gene Condition
    CHRNE Myasthenic syndrome, congenital, 4, autosomal recessive
    AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
    ALG14 Myasthenic syndrome, congenital, 15, without tubular aggregates
    SYT2 Congenital myasthenic syndrome 7, autosomal recessive
    SYT2 Congenital myasthenic syndrome 7, autosomal dominant
    CHAT Congenital myasthenic syndrome-6
    CHRNA1 Congenital myasthenic syndrome-1, autosomal recessive
    CHRNA1 Congenital myasthenic syndrome-1, autosomal dominant
    CHRNB1 Congenital myasthenic syndrome-2, autosomal recessive
    CHRNB1 Congenital myasthenic syndrome-2, autosomal dominant
    CHRND Congenital myasthenic syndrome-3, autosomal recessive
    CHRND Congenital myasthenic syndrome-3, autosomal dominant
    COL13A1 Congenital myasthenic syndrome-19
    COLQ Congenital myasthenic syndrome-5
    DOK7 Congenital myasthenic syndrome-10
    DPAGT1 Congenital myasthenic syndrome-13
    ALG2 Congenital myasthenic syndrome-14
    GFPT1 Congenital myasthenic syndrome-12
    MUSK Congenital myasthenic syndrome-9
    PREPL Congenital myasthenic syndrome-22
    RAPSN Congenital myasthenic syndrome-11
    SLC18A3 Congenital myasthenic syndrome-21
    SLC25A1 Congenital myasthenic syndrome-23
    SLC5A7 Congenital myasthenic syndrome-20
    VAMP1 Congenital myasthenic syndrome-25
    SCN4A Congenital myasthenic syndrome-16
  48. Congenital Neutropenia (10 genes)
    Gene Condition
    CLPB Neutropenia, severe congenital, 9, autosomal dominant
    CSF3R Severe congenital neutropenia 7
    CXCR4 WHIM syndrome
    ELANE Neutropenia, severe congenital 1, autosomal dominant
    G6PC3 Severe congenital neutropenia 4
    GFI1 Severe congenital neutropenia 2
    HAX1 Neutropenia, severe congenital 3, autosomal recessive
    JAGN1 Severe congenital neutropenia 6
    USB1 Poikiloderma with neutropenia
    VPS45 Severe congenital neutropenia 5
  49. Congenital adrenal hyperplasia (3 genes)
    Gene Condition
    CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
    HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
    CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency
  50. Congenital adrenal hypoplasia (1 gene)
    Gene Condition
    NR0B1 Adrenal hypoplasia, congenital
  51. Congenital adrenal insufficiency with 46XY sex reversal (1 gene)
    Gene Condition
    CYP11A1 Congenital adrenal insufficiency with 46XY DSD
  52. Congenital amegakaryocytic thrombocytopenia (1 gene)
    Gene Condition
    MPL Congenital amegakaryocytic thrombocytopenia
  53. Congenital bile acid synthesis defect (5 genes)
    Gene Condition
    HSD3B7 Bile acid synthesis defect, congenital, 1
    AKR1D1 Bile acid synthesis defect, congenital, 2
    CYP7B1 Bile acid synthesis defect, congenital, 3
    AMACR Bile acid synthesis defect, congenital, 4
    ACOX2 Congenital bile acid synthesis defect type 6
  54. Congenital disorder of glycosylation (1 gene)
    Gene Condition
    PGM1 Congenital disorder of glycosylation, type It
  55. Congenital erythropoietic porphyria (1 gene)
    Gene Condition
    UROS Congenital erythropoietic porphyria
  56. Congenital generalised lipodystrophy (4 genes)
    Gene Condition
    AGPAT2 Congenital generalized lipodystrophy type 1
    BSCL2 Lipodystrophy, congenital generalized, type 2
    CAV1 Lipodystrophy, congenital generalized, type 3
    CAVIN1 Lipodystrophy, congenital generalized, type 4
  57. Congenital hyperinsulinism (6 genes)
    Gene Condition
    HADH Familial hyperinsulinemic hypoglycemia-4
    HK1 HK1 related hyperinsulinism
    PMM2 Polycystic kidney disease with hyperinsulinemic hypoglycemia
    GCK Familial hyperinsulinemic hypoglycemia-3
    ABCC8 Hyperinsulinemic hypoglycemia, familial, 1
    KCNJ11 Familial hyperinsulinemic hypoglycemia-2, autosomal recessive
  58. Congenital hypoaldosteronism (1 gene)
    Gene Condition
    CYP11B2 Hypoaldosteronism, congenital, due to CMO I deficiency
  59. Congenital hypothyroidism (14 genes)
    Gene Condition
    DUOX2 Thyroid dyshormonogenesis 6
    DUOXA2 Thyroid dyshormonogenesis 5
    TPO Thyroid dyshormonogenesis 2A
    TG Thyroid dyshormonogenesis 3
    SLC5A5 Thyroid dyshormonigenesis 1
    SLC26A7 Thyroid dyshormonigenesis (no phenotype on OMIM)
    TSHR Hypothyroidism, congenital, nongoitrous, 1
    TRHR Hypothyroidism, congenital, nongoitrous, 7
    PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
    IYD Thyroid dyshormonogenesis 4
    IGSF1 Hypothyroidism, central, and testicular enlargement
    TBL1X Hypothyroidism, congenital, nongoitrous, 8
    IRS4 Hypothyroidism, congenital, nongoitrous, 9
    TSHB Hypothyroidism, congenital, nongoitrous 4
  60. Congenital lactase deficiency (1 gene)
    Gene Condition
    LCT Lactase deficiency, congenital
  61. Congenital prothrombin deficiency (1 gene)
    Gene Condition
    F2 Congenital Prothrombin deficiency
  62. Congenital sucrase-isomaltase deficiency (1 gene)
    Gene Condition
    SI Congenital sucrase-isomaltase deficiency
  63. Crigler-Najjar syndrome Type I (1 gene)
    Gene Condition
    UGT1A1 Crigler-Najjar syndrome Type I
  64. Cystic fibrosis (1 gene)
    Gene Condition
    CFTR Cystic fibrosis
  65. Cystinosis (1 gene)
    Gene Condition
    CTNS Cystinosis, nephropathic
  66. cytochrome P450 oxidoreductase deficiency (1 gene)
    Gene Condition
    POR cytochrome P450 oxidoreductase deficiency