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PGT-M conditions

This table shows all PGT-M 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 pgtm@hfea.gov.uk.


Condition name Status OMIM number Documents
Joubert syndrome type 21 approved 615636
Joubert syndrome type 22 approved 615665
Joubert syndrome type 23 approved 616490
Joubert syndrome type 24 approved 616654
Joubert syndrome type 25 approved 616781
Joubert syndrome type 26 approved 616784
Joubert syndrome type 3 approved 608629
Joubert syndrome type 4 approved 609583
Joubert syndrome type 5 approved 610188
Joubert syndrome type 6 approved 610688
Joubert syndrome type 7 approved 611560
Joubert syndrome type 8 approved 612291
Joubert syndrome type 9 approved 612285
Junctional Epidermolysis Bullosa (Herlitz type) approved 226700
Juvenile Polyposis Syndrome (JPS) approved 174900
Kabuki Syndrome Type 1 approved 147920
Kabuki Syndrome Type 2 approved 300867
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS) approved 530000, 557000
Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX) approved 308800
Krabbe Disease approved 245200