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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
Methylmalonic Acidemia (MMA) approved 251000
Methylmalonic Acidemia cb1A approved 251100
Methylmalonic Acidemia cb1B approved 251110
Methylmalonic Aciduria and Homocystinuria approved 277400
Micro Syndrome (WARBM) approved 600118
Microcephalic Osteodysplastic Primordial Dwarfism Type 1, (MOPD1) approved 210710
Microcephalic Osteodysplastic Primordial Dwarfism Type 2, (MOPD2) approved 210720
Microcephaly with or without chorioretinopathy, lymphoedema or mental retardation approved 152950
Microcephaly, seizures, and developmental delay (MCSZ) approved 613402
Microcephaly, Short Stature and Polymicrogyria with or without seizures (MSSP) approved 614833
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA awaiting approval 255320
Mismatch Repair Cancer Syndrome (MMRCS) approved 276300
Mismatch Repair Cancer Syndrome 2, (MMRCS2) approved 619096
Mismatch Repair Cancer Syndrome 3, (MMRCS3) approved 619097
Mismatch Repair Cancer Syndrome 4, (MMRCS4) approved 619101
Mitochondrial Complex 1 Deficiency caused by mutation in ACAD9 gene approved 611126
MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17) awaiting approval 618239
Mitochondrial Complex II Deficiency approved 252011
Mitochondrial Complex III Deficiency approved 124000
Mitochondrial Complex IV Deficiency approved 220110