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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.

Download full approved condition list.

Condition name Status OMIM number Documents
Congenital hypomyelinating neuropathy 1 approved 605253
Congenital hypomyelinating neuropathy 2 approved 618184
Congenital hypomyelinating neuropathy 3 (CHN3) approved 618186
Congenital Mitochondrial Encephalomyopathy approved 500002
Congenital stationary night blindness Type 1A (CSNB1A) approved 310500
Conradi-Hunermann-Happle Syndrome approved 302960
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis, approved 602066
Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS) approved 601728, 158350, 153480, 605309
Craniofrontonasal syndrome (CFNS) approved 304110
Crigler-Najjar Syndrome Type 1 (CN1) approved 218800
Crouzon Syndrome approved 123500
Crouzon with acanthosis nigrans syndrome approved 612247
Currarino Syndrome approved 176450
Cutis Laxa, autosomal dominant 1 (ADCL1) approved 123700
Cutis Laxa, autosomal recessive, type IA (ARCL1A) approved 219100
Cutis Laxa, autosomal recessive, type IB (ARCL1B) approved 614437
Cutis Laxa, autosomal recessive, type IC (ARCL1C) approved 613177
Cutis Laxa, autosomal recessive, type IIA (ARCL2A) approved 219200
Cutis Laxa, autosomal recessive, type IIB; ARCL2B approved 612940
Cutis Laxa, autosomal recessive, type IIC (ARCL2C), approved 617402