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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 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, Lubs Type (MRXSL) approved 300260
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type; WTS approved 309585
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type; MRXSW approved 300699
Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism approved 300123
Intellectual Disability, Autosomal Recessive 12 approved 611090
Intellectual Disability, X-linked 102 (MRX102) approved 300958
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked) approved 304790
Isolated Growth Hormone Deficiency - type 1A (IGHD1A) approved 262400
Isolated Microphthalmia 2 (MCOP2) approved 610093
Isolated Sulfite Oxidase Deficiency (ISOD) approved 272300
Jackson Weiss syndrome, OMIM approved 123150