Table 1.

Summary of genotype and phenotype of cohort

Sex	MRI	Neurological and/or developmental problems	NRAS genotype	BRAF genotype	MC1R genotype	Multiple CMN	Postnatal/ recurrent nodules	Classic facies
Male 53 (39·6)	Normal 67 (71·3)	Yes 23 (18·3)	Mutation positive 80 (68·4) p.(Q61K) 59 (73·8) p.(Q61R) 17 (21·3) p.(Q61H) 3 (3·8) p.(G13R) 1 (1·25)	BRAF p.(V600E) 7 (7·3)	At least one MC1R variant 47 (62·7)	Multiple 94 (75·8)	Present 26 (22·4)	Present 66 (68·8)
Female 81 (60·4)	Abnormal 27 (28·7)	None 103 (81·7)	Mutation negative 37 (31·6)	Mutation negative 89 (92·7)	No MC1R variants 28 (37·3)	Single 30 (24·2)	Absent 89 (76·7)	Absent 30 (31·3)
Missing n = 0	Missing n = 40	Missing n = 8	Missing n = 17	Missing n = 38	Missing n = 59	Missing n = 10	Missing n = 19	Missing n = 38

All data are presented as n (%) unless otherwise stated. MRI, magnetic resonance imaging; CMN, congenital melanocytic naevi.