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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 (G-I)

  1. GLUT1 deficiency syndrome (2 genes)
    Gene Condition
    SLC2A1 GLUT1 deficiency syndrome-1, Autosomal Dominant
    SLC2A1 GLUT1 deficiency syndrome-1, Autosomal Recessive
  2. Galactokinase deficiency with cataracts (1 gene)
    Gene Condition
    GALK1 Galactokinase deficiency with cataracts
  3. Galactosaemia (1 gene)
    Gene Condition
    GALT Galactosaemia
  4. Galactose epimerase deficiency (1 gene)
    Gene Condition
    GALE Galactose epimerase deficiency
  5. Gastrointestinal defects and immunodeficiency syndrome (1 gene)
    Gene Condition
    TTC7A Gastrointestinal defects and immunodeficiency syndrome
  6. Generalised arterial calcification of infancy (2 genes)
    Gene Condition
    ENPP1 Arterial calcification, generalized, of infancy, 1
    ABCC6 Generalized arterial calcification of infancy 2
  7. Glanzmann thrombasthenia (2 genes)
    Gene Condition
    ITGA2B Glanzmann thrombasthenia 1
    ITGB3 Glanzmann thrombasthenia 2
  8. Glucocorticoid deficiency (3 genes)
    Gene Condition
    MC2R MC2R familial glucocorticoid deficiency
    MRAP MRAP familial glucocorticoid deficiency type 2
    NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency
  9. Glucose/galactose malabsorption (1 gene)
    Gene Condition
    SLC5A1 Glucose/galactose malabsorption
  10. Glutaric aciduria type I (1 gene)
    Gene Condition
    GCDH Glutaric aciduria, type I
  11. Glycogen storage disease IX (2 genes)
    Gene Condition
    PHKA2 Glycogen storage disease, type IXa1
    PHKG2 Glycogen storage disease IXc
  12. Glycogen storage disease VI (1 gene)
    Gene Condition
    PYGL Glycogen storage disease VI
  13. Glycogen storage disease type I (2 genes)
    Gene Condition
    G6PC1 Glycogen storage disease type Ia
    SLC37A4 Glycogen storage disease type Ib and 1c
  14. Glycogen storage disease type II (Pompe Disease) (1 gene)
    Gene Condition
    GAA Glycogen storage disease type II
  15. Glycogen storage disease type III (1 gene)
    Gene Condition
    AGL Glycogen storage disease type III
  16. Griscelli Syndrome (1 gene)
    Gene Condition
    RAB27A Griscelli syndrome, type 2
  17. Growth hormone insensitivity with immune dysregulation (1 gene)
    Gene Condition
    STAT5B Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
  18. Growth hormone receptor deficiency (1 gene)
    Gene Condition
    GHR Growth hormone receptor deficiency
  19. Growth hormone-secreting pituitary adenoma-2 (1 gene)
    Gene Condition
    GPR101 Growth hormone-secreting pituitary adenoma-2
  20. Gyrate atrophy of choroid and retina with or without ornithinemia (1 gene)
    Gene Condition
    OAT Gyrate atrophy of choroid and retina with or without ornithinemia
  21. HMG-CoAlyasedeficiency (1 gene)
    Gene Condition
    HMGCL HMG-CoAlyasedeficiency
  22. HMG-CoAsynthase-2 deficiency (1 gene)
    Gene Condition
    HMGCS2 HMG-CoA synthase-2 deficiency
  23. Haemophilia A (1 gene)
    Gene Condition
    F8 Haemophilia A
  24. Haemophilia B (1 gene)
    Gene Condition
    F9 Haemophilia B
  25. Hennekam lymphangiectasia-lymphedema syndrome (1 gene)
    Gene Condition
    CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1
  26. Hepatic venoocclusive disease with immunodeficiency (1 gene)
    Gene Condition
    SP110 Hepatic venoocclusive disease with immunodeficiency
  27. Hepatoerythropoietic porphyria (1 gene)
    Gene Condition
    UROD Porphyria, hepatoerythropoietic
  28. Hereditary folate malabsorption (1 gene)
    Gene Condition
    SLC46A1 Hereditary folate malabsorption
  29. Hereditary fructose intolerance (1 gene)
    Gene Condition
    ALDOB Hereditary fructose intolerance
  30. Heritable Retinoblastoma (1 gene)
    Gene Condition
    RB1 Retinoblastoma
  31. Hermansky-Pudlak syndrome (2 genes)
    Gene Condition
    AP3B1 Hermansky-Pudlak syndrome 2
    AP3D1 Hermansky-Pudlak syndrome 10
  32. Holocarboxylase synthetase deficiency (1 gene)
    Gene Condition
    HLCS Holocarboxylase synthetase deficiency
  33. Homocystinuria (1 gene)
    Gene Condition
    CBS Homocystinuria, B6-responsive and nonresponsive types
  34. Homocystinuria-megaloblastic anaemia (2 genes)
    Gene Condition
    MTRR Homocystinuria-megaloblastic anaemia, cbl E type
    MTR Homocystinuria-megaloblastic anaemia, cblG complementation type
  35. Homozygous Familial hypercholesterolaemia (4 genes)
    Gene Condition
    LDLR Homozygous Familial hypercholesterolaemia-1
    LDLRAP1 Homozygous Familial hypercholesterolaemia-4
    APOB Hypercholesterolaemia, familial, 2 autosomal recessive
    PCSK9 Familial hypercholesterolaemia-3 Autosomal Recessive
  36. Homozygous Variegate Porphyria (1 gene)
    Gene Condition
    PPOX Homozygous Variegate Porphyria
  37. Hyper IgE recurrent infection syndrome (1 gene)
    Gene Condition
    STAT3 Hyper IgE recurrent infection syndrome
  38. Hyperammonemia due to carbonic anhydrase VA deficiency (1 gene)
    Gene Condition
    CA5A Hyperammonemia due to carbonic anhydrase VA deficiency
  39. Hypercalcemia (2 genes)
    Gene Condition
    CYP24A1 Hypercalcemia, infantile, 1
    SLC34A1 Hypercalcemia, infantile, 2
  40. Hyperinsulinism-hyperammonaemia syndrome (1 gene)
    Gene Condition
    GLUD1 Hyperinsulinism-hyperammonaemia syndrome
  41. Hypermanganesaemia with dystonia (1 gene)
    Gene Condition
    SLC30A10 Hypermanganesaemia with dystonia 1
  42. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome (1 gene)
    Gene Condition
    SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  43. Hyperphenyalaninaemia (2 genes)
    Gene Condition
    PTS Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
    QDPR Hyperphenylalaninemia due to dihydropteridine reductase deficiency
  44. Hypobetalipoproteinaemia (1 gene)
    Gene Condition
    APOB Hypobetalipoproteinaemia
  45. Hypogonadotropic hypogonadism (6 genes)
    Gene Condition
    ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
    GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
    KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
    PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
    PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive
    TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
  46. Hypohidrotic ectodermal dysplasia (5 genes)
    Gene Condition
    EDA Ectodermal dysplasia 1, hypohidrotic, X-linked
    EDAR Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
    EDAR Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
    EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
    EDARADD Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
  47. Hypoparathyroidism (1 gene)
    Gene Condition
    GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
  48. Hypophosphataemic rickets (4 genes)
    Gene Condition
    PHEX Hypophosphatemic rickets, X-linked dominant
    FGF23 Hypophosphatemic rickets, autosomal dominant
    SLC34A3 Hypophosphatemic rickets with hypercalciuria
    DMP1 Hypophosphatemic rickets, AR
  49. Hypophosphatasia (1 gene)
    Gene Condition
    ALPL Autosomal recessive hypophosphatasia
  50. IMAGE syndrome (1 gene)
    Gene Condition
    CDKN1C IMAGE syndrome
  51. IMAGE-I syndrome (1 gene)
    Gene Condition
    POLE IMAGE-I syndrome
  52. Imerslund-Grasbeck syndrome (2 genes)
    Gene Condition
    CUBN Imerslund-Grasbeck syndrome 1
    AMN Imerslund-Grasbeck syndrome 2
  53. Immunodeficiency (34 genes)
    Gene Condition
    STAT1 Immunodeficiency 31B
    LCK immunodeficiency 22
    FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
    PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency
    PRKDC Immunodeficiency 26, with or without neurologic abnormalities
    LAT Immunodeficiency 52
    DOCK2 Immunodeficiency 40
    RAC2 Immunodeficiency 73B
    IFNGR1 Immunodeficiency 27A, mycobacteriosis, Autosomal dominant
    IFNGR1 Immunodeficiency 27A, mycobacteriosis, autosomal recessive
    IFNGR2 Immunodeficiency 28, mycobacteriosis
    FCHO1 Immunodeficiency 76
    IKBKB Immunodeficiency 15B
    CTPS1 Immunodeficiency 24
    IRAK4 IRAK4 deficiency
    MYD88 Immunodeficiency 68
    STK4 STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
    LIG1 LIG1 associated immunodeficiency
    MAGT1 X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
    RASGRP1 Immunodeficiency 64
    IRF8 Immunodeficiency 32B
    MCM4 Immunodeficiency 54
    ARPC1B Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
    IL12B Immunodeficiency 29, mycobacteriosis
    IL12RB1 Immunodeficiency 30
    MSN Immunodeficiency 50
    SPPL2A Immunodeficiency 86, mycobacteriosis
    STAT2 Immunodeficiency 44
    TFRC Immunodeficiency 46
    TLR3 Immunodeficiency 83 dominant loss of function
    TLR3 Immunodeficiency 83 dominant negative
    TLR3 Immunodeficiency 83 recessive loss of function
    TRAC Immunodeficiency 7
    ZNFX1 Immunodeficiency 91 and hyperinflammation
  54. Immunodeficiency with hyper-IgM (4 genes)
    Gene Condition
    CD40 Immunodeficiency with hyper-IgM, type 3
    CD40LG X-linked immunodeficiency with hyper-IgM type 1
    AICDA Immunodeficiency with hyper-IgM, type 2
    UNG Immunodeficiency with hyper IgM, type 5
  55. Immunodeficiency with lymphoproliferation and autoimmunity (2 genes)
    Gene Condition
    IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity
    IL2RB Immunodeficiency 63 with lymphoproliferation and autoimmunity
  56. Immunodeficiency-centromeric instability-facial anomalies syndrome (4 genes)
    Gene Condition
    DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
    ZBTB24 Immunodeficiency-centromeric instability-facial anomalies syndrome 2
    CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3
    HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4
  57. Insulin-like growth factor I deficiency (1 gene)
    Gene Condition
    IGF1 Insulin-like growth factor I deficiency
  58. Intestinal hypomagnesaemia (1 gene)
    Gene Condition
    TRPM6 Hypomagnesemia 1, intestinal
  59. Intrinsic factor deficiency (1 gene)
    Gene Condition
    CBLIF Intrinsic factor deficiency
  60. Isolated growth hormone deficiency (5 genes)
    Gene Condition
    GH1 Isolated growth hormone deficiency type 1A, autosomal recessive
    GH1 Isolated growth hormone deficiency type 1B, autosomal recessive
    GH1 Isolated growth hormone deficiency type II, autosomal dominant
    GHRHR Isolated growth hormone deficiency type 4
    RNPC3 RNPC3 associated growth hormone deficiency
  61. Isolated methylmalonic acidaemia (5 genes)
    Gene Condition
    MMAA Methylmalonic aciduria, vitamin B12-responsive, cblA type
    MMUT Methylmalonic acidemia, mut(0) type
    MMADHC Methylmalonic aciduria, cblD type, variant 2
    MMAB Methylmalonic aciduria, vitamin B12-responsive, cblB type
    MCEE Methylmalonyl-CoA epimerase deficiency
  62. Isovaleric acidaemia (1 gene)
    Gene Condition
    IVD Isovaleric acidaemia