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PGD conditions

This table shows all PGD conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgd@hfea.gov.uk.

Condition name Status OMIM number Documents
Scapuloperoneal spinal muscular atrophy (SPSMA) approved 181405
Schwannomatosis type 1 approved 162091
Schwannomatosis type 2 approved 615670
Seizures, Cortical Blindness, Microcephaly Syndrome (SCBMS) approved 616632
Sengers Syndrome approved 212350
Senior Loken Syndrome 6 approved 610189
Senior-Loken Syndrome (SLSN) types 1, 3, 4, 5, 7, 8 and 9 awaiting approval 266900, 606995, 606996, 609254, 613615, 616307 and 616629 respectively
Severe / Profound Global Developmental Delay and Epilepsy (GRM7 gene) approved 604101
Severe Combined Immune Deficiency (x-linked) (SCIDX1) approved 300400
Severe Combined Immunodeficiency – autosomal recessive approved 600802
Severe Combined Immunodeficiency (SCID) approved 601457
Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) approved 102700
Short-Rib Thoracic Dysplasia, types 2 - 11, 13 and 14 approved 611263, 613091, 613819, 614376, 263520, 614091, 615503, 266920, 615630, 615633, 616300, and 616546
Shwachman-Diamond syndrome (SDS) approved 260400
Sialic Acid Storage Disorder (ISSD) approved 269920
Sickle Cell Anaemia* approved 603903
Simpson Golabi Behmel Syndrome Type 1 approved 312870 (to detect affected males)
Simpson-Golabi-Behmel Syndrome Type 2 approved 300209
Sjogren Larsson Syndrome (SLS) approved 270200
Small-fibre neuropathy (SFN) approved 133020