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.
Download full approved condition list.
Condition name | Status | OMIM number | Documents |
---|---|---|---|
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Syndrome (PAPA) | approved | 604416 | |
Pyrodoxine-dependent seizures (EPD) | approved | 266100 | |
Pyruvate dehydrogenase E1-alpha deficiency X-linked | approved | 312170 | |
Pyruvate Dehydrogenase E1-beta Deficiency | approved | 614111 | |
Pyruvate Dehydrogenase, Alpha-1 (PDHA1) | approved | 312170 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 1 (RUSAT1) | approved | 605432 | |
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT2) | approved | 616738 | |
Rapp-Hodgkin Syndrome (RHS) | approved | 129400 | |
Recurrent Digynic Triploidy | approved | ||
Recurrent hydatidiform mole (HYDM1) | approved | 231090 | |
Recurrent infections with encephalopathy, hepatic dysfunction and cardiovascular malformations (FADD deficiency) | approved | 613759 | |
Renal cell carcinoma, papillary, 1 (RCCP1) | approved | 605074 | |
Renal Coloboma Syndrome | approved | 120330 | |
Renal Cysts and Diabetes (RCAD) | approved | 137920 | |
Renal Tubular Dysgenesis (RTD) | awaiting consideration | 267430 | |
Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1 | approved | 208540 | |
Renal-Hepatic-Pancreatic Dysplasia 2; RHPD2 | approved | 615415 | |
Renpenning Syndrome 1; RENS1 | approved | 309500 | |
Retinal macular dystrophy 2 | approved | 608051 | |
Retinitis Pigmentosa (autosomal dominant) | approved | 180100 |