Genomic RIT1 variant (NM_006912.5) |
c.268A>G |
c.268A>G |
c.268A>G |
c.268A>G |
c.268A>G |
c.245T>G |
c.245T>G |
Protein variant (NP_008843.1) |
p.Met90Val |
p.Met90Val |
p.Met90Val |
p.Met90Val |
p.Met90Val |
p.Phe82Cys |
p.Phe82Cys |
De novo |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
Fetal (prenatal) |
Fetal (prenatal) |
Fetal
(prenatal) |
Fetal (prenatal) |
Fetal (prenatal) |
Fetal (prenatal) |
Fetal (prenatal) |
Fetal
(prenatal) |
Increased nuchal translucency |
+ |
$ |
+ |
+ |
|
+ |
|
Cystic hygroma |
+ |
+ |
+ |
|
+ |
+ |
+ |
Large jugular lymphatic sacs |
+ |
+ |
+ |
|
|
+ |
|
Hydrops fetalis |
+ |
+ |
+¤ |
+ |
+ |
+ |
+ |
bilateral hydrothorax/
pleural effusion
|
+
|
+
|
+
|
|
|
+
|
|
ascites |
no |
|
+ |
+ |
+ |
+ |
|
skin edema |
no |
|
|
|
+ |
+ |
|
severe generalized edema/ anasarca |
no |
+ |
+ |
|
|
+ |
|
Hydronephrosis/
pyelectasis
|
no
|
+
|
*
|
|
|
+¥
|
|
Flattened facies |
no |
+ |
|
|
|
+ |
|
Cardiac defect |
no |
no |
no |
|
|
no |
+ |
CNS malformations |
no |
no |
no |
|
|
no |
+§ |
Maternal |
Maternal |
Maternal |
Maternal |
Maternal |
Maternal |
Maternal |
Maternal |
Polyhydramnios |
no |
+ |
+ |
|
|
+ |
|
Amnioreduction
procedure
|
no
|
several
|
once
|
|
|
planned
|
|
HELLP syndrome/
preeclampsia/ Mirror syndrome
|
no
|
no
|
+
|
|
|
+
|
|
Fetal death (GA)
|
31+5 IUFD
|
30
IUFD
|
26+4
during labor
|
IUFD
|
IUFD
|
28+6
after CS
|
18
|
Fetal/child (postnatal) |
Fetal/child (postnatal) |
Fetal/child (postnatal) |
Fetal/child (postnatal) |
Fetal/child (postnatal) |
Fetal/child (postnatal) |
Fetal/child (postnatal) |
Fetal/child
(postnatal) |
High (birth) weight |
no |
|
>2.5 SD |
|
|
>10 SD |
|
Hypertelorism |
+ |
|
+ |
|
|
|
|
Low set ears |
no |
|
+ |
|
|
no |
|
Broad short webbed neck |
+ |
|
+ |
|
|
+ |
|
Other |
|
|
|
|
p |
* |
|
Pathological examination |
NP |
|
NP |
|
+ |
NP |
|