Table 2 Clinical phenotype and identified variants in positive cases

Hydrops

PIEZO1 (AD/AR)

p.E679X (Homozygous PATH)^a

Generalized lymphatic dysplasia

PIEZO1 (AD/AR)

p.A1496V (Homozygous VUS)^b

Generalized lymphatic dysplasia

Bilateral enlarged cystic kidneys

BBS4 (AR)

c.1106+2T>A (Homozygous PATH)^a

Bardet–Biedl syndrome

ANKS6 (AR)

p.D313N (Heterozygous VUS)^b

PKD1 (AD)

p.P4162S (Heterozygous VUS)^b

Nephronophthisis 16

Polycystic kidney disease

Hydrops

HRAS (AD)

p.G13D (Heterozygous PATH)^a

Costello syndrome

Hydrops, diaphragmatic hernia, gracile ribs, contractures

RIPK4 (AR)

p.A10S (Heterozygous LPATH)^a

p.V303M (Heterozygous VUS)^a

Bartsocas–Papas syndrome

RSAD1 (unknown)

p.W431X (Homozygous VUS)^c

PPAP2C (unknown) p.R214Q (Heterozygous VUS)^c

Unknown

Frontal bossing, talipes, syndactyly, abducted thumbs

FGFR2 (AD)

c.940-1G>A (Heterozygous PATH) ^a

FGFR2-related disorder

Syndactyly, polydactyly

PTPN11 (AD)

p.N58K (Heterozygous PATH) ^a

Noonan syndrome

WDR35 (AR)

p.G103V (Heterozygous LPATH)^b

Cranioectodermal dysplasia

Brain malformations

PIK3CA (AD)

p.E545K (Heterozygous PATH) ^a

PIK3CA-related overgrowth syndromes

MYH3 (AD)

p.A1637V (Heterozygous PATH; reclassified to LBEN)^d

Distal arthrogryposis

Hydrops, contractures, echogenic kidney, placentalmegaly

FOXP3 (XL)

p.R337X (Hemizygous PATH)^a

IPEX syndrome

COL10A1 (AD)

c.1632delG (Heterozygous PATH)^b

Schmid metaphyseal chondrodysplasia

Hydrops, CNS malformations, cardiomyopathy

MRPS22 (AR)

c.768_769del (Heterozygous PATH)^a

p.R170H (Heterozygous PATH)^a

MRPS22-related mitochondrial dysfunction

CNS malformations

FLNA (XL)

p.V552I (Hemizygous LPATH)^a

FLNA-related disorder

PTPN11 (AD)

p.D61G (Heterozygous PATH) ^b

Noonan syndrome

Hydrops, cardiomegaly

CYP11A1 (AR)

p.R120X (Homozygous PATH)^a

Adrenal insufficiency

Ventriculomegaly, cardiac left-axis deviation, absent radii

FANCB (XL)

c.987_990del (Hemizygous PATH) ^a

Fanconi anemia

Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalus

AMER1 (XL)

c.705delT (Hemizygous PATH)^a

Osteopathia striata with cranial sclerosis

Hydrops, CNS malformation, congenital heart defect

RIT1 (AD)

p.F82C (Heterozygous PATH) ^a

Noonan syndrome

Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias

PIK3R2 (AD)

p.K564E (Heterozygous LPATH) ^a

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus

Hydrocephalus consistent with aqueductal stenosis

L1CAM (XL)

c.2087delG (Hemizygous PATH)^a

Hydrocephalus

Shortened and bowed long bones, talipes

SOX9 (AD)

c.738delG (Heterozygous PATH)^a

Campomelic dysplasia