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PGT-M conditions

The page below lists all PGT-M conditions currently authorised and awaiting consideration by the HFEA.

When publishing genetic conditions on the authorised list, we aim to be as consistent as possible with the OMIM database. However, many conditions may have several different names and we would recommend searching the list using the OMIM number for the condition as this is less likely to change throughout time.

If a condition does not appear on the list, it does not necessarily mean the condition has specifically not been authorised, it may mean that we have never before received an application from a UK centre to perform PGT-M for this condition and it has therefore never been considered by the HFEA.

Please note that we are always processing new applications to add genetic conditions to the list from UK centres licensed to perform PGT-M. This may mean that some authorised conditions may not be displayed. If you are unsure if a condition has been authorised or not, or would like any further information please contact the PGTM team at pgtm@hfea.gov.uk.

Click here for a downloadable list: approved condition list. Please note that the website page below is updated more regularly and is therefore more accurate than the downloadable list.

Condition name Status OMIM number Documents
Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism approved 300123
Intellectual Disability, Autosomal Recessive 12 approved 611090
Intellectual Disability, X-linked 102 (MRX102) approved 300958
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 (MRXHF1) awaiting consideration 309580
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked) approved 304790
Isolated Growth Hormone Deficiency - type 1A (IGHD1A) approved 262400
Isolated Growth Hormone Deficiency, Type III, with Agammaglobulinemia (IGHD3) approved 307200
Isolated Microphthalmia 2 (MCOP2) approved 610093
Isolated Sulfite Oxidase Deficiency (ISOD) approved 272300
Jackson Weiss syndrome, OMIM approved 123150
Jalili Syndrome approved 217080
Jervell and Lange-Nielsen Syndrome 1 (JLNS1) approved 220400
Jervell and Lange-Nielsen Syndrome 2 (JLNS2) approved 612347
Joubert syndrome type 1 approved 213300
Joubert syndrome type 10 approved 300804
Joubert syndrome type 13 approved 614173
Joubert syndrome type 14 approved 614424
Joubert syndrome type 15 approved 614464
Joubert syndrome type 16 approved 614465
Joubert syndrome type 17 approved 614615