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PGT-M conditions

The page below lists all PGT-M conditions currently authorised and awaiting consideration by the HFEA.

When publishing genetic conditions on the authorised list, we aim to be as consistent as possible with the OMIM database. However, many conditions may have several different names and we would recommend searching the list using the OMIM number for the condition as this is less likely to change throughout time.

If a condition does not appear on the list, it does not necessarily mean the condition has specifically not been authorised, it may mean that we have never before received an application from a UK centre to perform PGT-M for this condition and it has therefore never been considered by the HFEA.

Please note that we are always processing new applications to add genetic conditions to the list from UK centres licensed to perform PGT-M. This may mean that some authorised conditions may not be displayed. If you are unsure if a condition has been authorised or not, or would like any further information please contact the PGTM team at pgtm@hfea.gov.uk.

Click here for a downloadable list: approved condition list. Please note that the website page below is updated more regularly and is therefore more accurate than the downloadable list.

Condition name Status OMIM number Documents
Intellectual Development Disorder, autosomal dominant, 29 (MRD29) approved 616078
Intellectual developmental disorder, X-linked 1 (IQSEC2) approved 309530
Intellectual Developmental Disorder, X-Linked 29; XLID29 approved 300419
Intellectual Developmental Disorder, X-Linked Syndromic 16; MRXS16 approved 305400
Intellectual Developmental Disorder, X-Linked, Syndromic 13; MRXS13 approved 300055
Intellectual Developmental Disorder, X-Linked, Syndromic 14; MRXS14 approved 300676
Intellectual Developmental Disorder, X-Linked, Syndromic 33; MRXS33 approved 300966
Intellectual Developmental Disorder, X-Linked, Syndromic, 35; MRXS35 approved 300998
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type; MRXSA approved 300261
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type; MRXSBL approved 300486
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type; MRXSC approved 300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type; MRXSHD approved 301039
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type; MRXSH approved 300423
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type; MRXSHG approved 301008
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type; MRXSLF approved 309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type; MRXSP approved 301076
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type; MRXSR approved 300799
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type; MRXSSD approved 300263
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type; MRXSSR approved 309583
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type; MRXST approved 309590