ID |
Clinical Diagnosis |
Pedigree
information |
Pedigree information |
Pedigree
information |
Genetic Findings |
Genetic Findings |
Genetic Findings |
Genetic Findings |
Genetic
Findings |
Genetic Findings |
Genetic Findings |
Genetic Findings |
Genetic Findings |
|
|
Parental Consanguinity |
Sporadic/Familial |
Inheritance |
Gene |
Nucleic Acid Alteration |
Amino Acid Alteration |
RefSeq 1 (NM) |
Coding Impact |
Genotype |
Known/Novel |
ACMG Classification |
Genetic Diagnosis |
IEM-1 |
MPS |
FC |
Sporadic |
AR |
NEU1 |
c.727G>A |
p.Gly243Arg |
NM_000434.3 |
Missense |
Homozygous |
Known |
P |
Sialidosis I/II |
IEM-2 |
MPS IV |
FC once removed |
Familial |
AR |
GNPTG |
c.426del |
p.Cys142fs |
NM_032520.4 |
Frameshift deletion |
Homozygous |
Novel |
LP |
Mucolipidosis III gamma |
IEM-3 |
MPS II |
FC |
Sporadic |
AR |
GNPTAB |
c.1212C>G |
p.Tyr404Ter |
NM_024312.4 |
Nonsense |
Homozygous |
Known |
P |
Mucolipidosis II/III alpha/beta |
IEM-4 |
MPS II |
FC |
Sporadic |
AR |
L2HGDH |
c.1015delA |
p.Arg339fs |
NM_024884.2 |
Frameshift deletion |
Homozygous |
Known |
P |
L-2-Hydroxyglutaric Aciduria |
IEM-5
|
MPS IV
|
NC
|
Sporadic
|
AR
|
CTSA
|
c.1090G>A
c.1396G>A
|
p.Val364Met
p.Ala466Thr
|
NM_000308.2
NM_000308.2
|
Missense
Missense
|
Heterozygous
Heterozygous
|
Novel
Novel
|
LP
VUS
|
Galactosialidosis
|