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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
Cerebro-oculo-facial-skeletal syndrome type 4 (COFS4) approved 610758
Ceroid Lipofuscinosis, Neuronal, type 1 (CLN1) approved 256730
Ceroid Lipofuscinosis, Neuronal, type 1 (CLN1) approved 256740
Ceroid Lipofuscinosis, Neuronal, type 10 (CLN10) approved 610127
Ceroid Lipofuscinosis, Neuronal, Type 2 (CLN2) approved 204500
Ceroid Lipofuscinosis, Neuronal, type 5 (CLN5) approved 256731
Ceroid Lipofuscinosis, Neuronal, type 6 (CLN6) approved 601780
Ceroid Lipofuscinosis, Neuronal, type 7 (CLN7) approved 610951
Ceroid Lipofuscinosis, Neuronal, type 8 (CLN8) approved 600143
CFHR5 Deficiency approved 614809
Charcot Marie Tooth Disease (x-linked) approved 302800
Charcot Marie Tooth Disease Type 2 approved 609260
Charcot Marie Tooth Disease Type 2A2B approved 617087
Charcot Marie Tooth Disease, demyelinating type 1A (CMT1A) approved 118220
Charcot Marie Tooth type 1B (CM1B) approved 118200
Charcot Marie Tooth type 1C (CM1C) approved 601098
Charcot Marie Tooth type 1D (CM1D) approved 607678
Charcot Marie Tooth type 1E (CM1E) approved 118300
Charcot Marie-Tooth Disease, Type 4E (CMT4E) approved 602253
Charcot-Marie Tooth Disease, Type 4J (CMT4J) approved 611228