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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
Polycystic Kidney Disease-type 6 (PKD6) approved 618061
Polymicrogyria in association with homozygous/compound heterozygous ATP1A2 variants (autosomal recessive) approved *182340
Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6 approved 607596, 277470, 612389, 612390, 613811, 608027, 225753, 611523
Pontocerebellar Hypoplasia type 1B (PCH1B) approved 614678
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal approved 618810
Popliteal Pterigum Syndrome (PPS) approved 119500
Porencephaly 1 approved 175780
Prader Willi Syndrome (PWS) approved 176270
Primary Ciliary Dyskinesia Type 1 (CILD1 approved 244400
Primary Ciliary Dyskinesia Type 10 (CILD10) approved 612518
Primary Ciliary Dyskinesia Type 11 (CILD11) approved 612649
Primary Ciliary Dyskinesia Type 12 (CILD12) approved 612650
Primary Ciliary Dyskinesia Type 13 (CILD13) approved 613193
Primary Ciliary Dyskinesia Type 14 (CILD14) approved 613807
Primary Ciliary Dyskinesia Type 15 (CILD15) approved 613808
Primary Ciliary Dyskinesia Type 15 (CILD15) approved 613808
Primary Ciliary Dyskinesia Type 16 (CILD16) approved 614017
Primary Ciliary Dyskinesia Type 16 (CILD16) approved 614017
Primary Ciliary Dyskinesia Type 17 (CILD17) approved 614679
Primary Ciliary Dyskinesia Type 18 (CILD18) approved 614874