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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
Mitochondrial Complex III Deficiency approved 124000
Mitochondrial Complex IV Deficiency approved 220110
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 2 (MC5DN2) approved 614052
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 5 (MC5DN5) approved 618120
Mitochondrial Complex V Deficiency approved 604273
Mitochondrial DNA Depletion Syndrome 13 (MTDPS13) approved 615471
Mitochondrial DNA Depletion Syndrome 15 (MTDPS15) approved 617156
Mitochondrial DNA Depletion Syndrome 2 (myopathic type) (MTDPS2) approved 609560
Mitochondrial DNA Depletion Syndrome 3 (MTDPS3) approved 251880
Mitochondrial DNA depletion syndrome 4A (Alpers type) (MTDPS4A) approved 203700
Mitochondrial DNA Depletion Syndrome 5 (MTDPS5) approved 612073
Mitochondrial DNA Depletion Syndrome 6 (MTDPS6) approved 256810
Mitochondrial DNA Depletion Syndrome 7 (MTDPS7) approved 271245
Mitochondrial DNA Depletion Syndrome 8A (MTDPS8A) approved 612075
Mitochondrial DNA Depletion Syndrome 9 (MTDPS9) approved 245400
Mitochondrial Myopathy and Ataxia (MMYAT) approved OMIM #617675 (autosomal recessive)
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D; Leigh syndrome) approved 616277
Mitochondrial Trifunctional Protein Deficiency approved 609015
Molybdenum Cofactor Deficiency Type B (MOCODB) approved 252160
Muckle-Wells Syndrome (MWS) approved 191900