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Table 2 Summarized clinical information

From: NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Sample ID

Family #

Reporta

Sex

Race/Ethnicity

Zygosity

C change

P change

Seg. anatomyb

D-looped ventricles

L-looped ventricles

Systemic laterality condition

Simple DTGA

DORV with D-MGA

Tricuspid atresia with MGA

CCTGA

DILV

Other left ventricular looping lesion

Heterotaxy (right atrial isomerism/asplenia)

Situs inversus

CVG005

Family 1

This study

M

NHW

Het

c.2T > C

p.M1T

S,L,L

   

X

    

LAT0080

This study

M

NHW

Het

c.2T > C

p.M1T

A,D,D

      

X

 

LAT0022

Family 2

Li&Moh

F

NHW

Het

c.194-1G > T

N/A

S,L,L

    

X

   

LAT0045

This study

F

NHW

Het

c.194-1G > T

N/A

    

X

    

LAT1696

Family 3

Li

F

NHW

Het

c.397C > T

p.E133K

S,L,L

   

X

    

LAT0123

Family 4

Moh

M

NHA

Het

c.607G > A

p.E203K

I,L,D

       

X

LAT1246

Family 5

This study

M

NHW

Het

c.742C > T

p.R248W

S,L,L

   

X

    

LAT0191

Family 6

Li&Moh

M

H

Het

c.700_723delins

p.R234_P241 delinsLTS

S,L,L

    

X

   

LAT1763

Family 7

Li

F

H

Het

c.700_723delins

p.R234_P241 delinsLTS

A,D,D

      

X

 

This study

Het

c.778G.A

p.G260R

CVG006

Family 8

This study

M

H

Hom

c.778G > A

p.G260R

A,D,D

      

X

 

LAT0108

Family 9

This study

M

H

Hom

c.778G > A

p.G260R

A,D,D

      

X

 

LAT0265

Family 10

This study

M

H

Hom

c.778G > A

p.G260R

A,?,D

      

X

 

CVG001

Family 11

This study

M

H

Het

c.778G > A

p.G260R

S,L,L

     

X

  

LAT0040

Family 12

Moh

F

H

Het

c.778G.A

p.G260R

I,D,D

       

X

LAT0201

Family 13

Moh

F

H

Het

c.778G > A

p.G260R

S,L,X

    

X

   

LAT0248

Family 14

Moh

M

H

Het

c.778G > A

p.G260R

A,D,D

      

X

 

LAT0658

Family 15

Moh

M

H

Het

c.778G > A

p.G260R

A,?,X

      

X

 

LAT0830

Family 16

This study

F

H

Het

c.778G > A

p.G260R

S,L,D

     

X

  

LAT0858

Family 17

Moh

M

H

Het

c.778G > A

p.G260R

S,D,D

 

X

      

LAT1016

Family 18

Moh

M

H

Het

c.778G > A

p.G260R

S,D,D

 

X

      

LAT0909

Family 19

Moh

M

NHW

Het

c.778G > A

p.G260R

S,D,D

X

       

LAT1028

Family 20

Moh

F

H

Het

c.778G > A

p.G260R

S,D,L

    

X

   

LAT1391

Family 21

This study

M

H

Het

c.778G > A

p.G260R

S,D,D

X

       

LAT1617

Family 22

This study

M

H

Het

c.778G > A

p.G260R

S,L,L

   

X

    

LAT1769

Family 23

This study

M

H

Het

c.778G > A

p.G260R

S,L,L

   

X

    

LAT0165

Family 24

Moh

M

H

Het

c.823C > T

p.R275C

A,D,D

      

X

 

CVG003

Family 25

This study

M

NHW

Het

c.823C > T

p.R275C

S,D,L

  

X

     

LAT0368

Family 26

Moh

M

NHW

Het

c.850G > T

p.V284F

S,L,L

   

X

    

LAT0457

Family 27

Moh

M

H

Het

c.891 + 1 G > A

N/A

S,L,L

     

X

  

LAT1724

Family 28

This study

M

NHB

Het

c.916C > T

p.H306Y

A,D,X

      

X

 

LAT0048

Family 29

This study

M

NHW

Het

c.1039C > T

p.L347F

S,D,D

X

       

LAT1415

Family 30

This study

M

NHA

Het

CNV

CNV: del 10:72204016–72157996

S,D,D

  

X

     

CVG007

Family 31

This study

M

NHW

Het

CNV

CNV: del 10:72189745–

72194422

A,L,L

      

X

 
  1. The rows in bold represent biallelic cases
  2. CCTGA Congenitally corrected transposition of the great arteries, CNV Copy number variant, DILV Double inlet left ventricle, D-MGA Dextro-malposed great arteries, DORV Double outlet right ventricle, DTGA Dextro-transposition of the great arteries, F Female, H Hispanic, Het. Heterozygous, Hom. Homozygous, M Male, NHA Non-Hispanic Asian, NHW Non-Hispanic White
  3. aLi et al. (2019) [15] Eur. J. Hum. Genet., Mohapatra et al. (2009) [13] Hum. Mol. Genet
  4. bSegmental anatomy using Van Praagh classification system [24]
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Genome Medicine

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