Table 1.

Summary of recruitment demographics, family structure, and types of mutation reported including mode of inheritance

Number of probands sequenced	195
Family structure	Singleton: 3 (1%), Parent + child: 18 (9%), Trio: 169 (87%), Othera: 5 (3%)
Gender	Male: 99 (51%), Female: 96 (49%)
Recruitment ward	NICUb: 106 (54%), PICU: 61 (31%), Paediatric Neurology: 23 (12%), Clinical Genetics: 5 (3%)
Age at recruitment	NICU: 1 day–6 months (median 12 days) Other: 8 days–16.8 yearsc (median 24 months)

Genetic diagnosis via WGS	40 (21%)
ACMG classification	Pathogenic: 21, Likely pathogenic: 17, VUSd: 2
Contribution to phenotype	Fully explained: 38, Partially explained: 2
Inheritance pattern	De novo: 27 (autosomal dominant: 24, X-linked dominant: 2, X-linked recessive: 1) Inherited: 13 (homozygous: 4, compound heterozygous: 6, X-linked recessive: 2, X-linked dominant: 1)
Variant type	Loss of function: 18 (frameshift: 8, stop gain: 3, splicing: 4, structural variant: 3), missense: 21, in-frame deletion: 1

^aIncludes trio + sibling (4) and trio + grandparents (1)

^bIncludes two cases from other postnatal wards

^cIn addition there is one 23-year-old

^dOne case (44) was a duo and likely pathogenic pending confirmation of de novo; one case (138) was a missense VUS in trans with a pathogenic loss of function variant