Table 3 Variants reported in genes classified as candidate genes

Main ultrasound findings	Gene	Variant	Additional reported variants
Congenital nephrosis	CRB2 ^a	p.E643A p.N800K	DHCR7 ^b
Ventriculomegaly, renal cysts, heart defect	CRB2 ^a	p.N800K p.W759X	None
Joint contractures, hydrops	CDK5	p.N256S	NEB^b, RYR1^b, SYNE1^b
Lung hypoplasia, polycystic kidneys, hypertrophy of heart	DNAH17 HSPB11	p.Q1652P c.182_183insG	DNAH5 ^b
IUGR, scalloping of cranial bones, heart defect, club foot, pyelectasis	DNAH7	c.11385_11386insA	None
Hydrops	DUOXA1	p.E396X	None
Hydrops	FEN1	p.C235Y	None
External female genitalia, chromosomes 46XY, micromelia, oligohydramnios, placentomegaly	MTHFD1LSP9	p.R586X p.G7R	None
Hydrops	MYBBP1A	c.3196-2A>G p.Q383P	PMM2 ^b
Diaphragmatic hernia	NUP188 PCSK5	p.R202H p.C942Y	None
Hydrops, polyhydramnios, unilateral club foot, diaphragmatic hernia, absent stomach	PPAP2C RSAD1 RSAD1	p.R214Q p.W431X p.W431X	RIPK4 ^c
Cleft lip and palate, absent nose, brain anomalies	SIX4	p.G490R	SATB2^b, ZIC1^b
Hydrocephalus, diaphragmatic hernia	WNT3	p.R326Q	None

Confirmed de novo variants shown in bold.
^aGene now published and no longer a candidate gene; known cause of recessive nephritic syndrome.
^bPossible result.
^cPositive result.

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