Genes associated with “SSADHD”

Diagnostic yield calculator →
48 genes foundOpen Targets: succinic semialdehyde dehydrogenase deficiency
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

1 gene
1
ALDH5A1 →

aldehyde dehydrogenase 5 family member A1

30
score
ClinGen: DefinitiveGTR ↑

Succinic semialdehyde dehydrogenase deficiency

Frequency
-
P/LP Variants
208
OT Score
0.84

Consider

10 genes
13SSADHD

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PLP1
Def

proteolipid protein 1

10GPLD1
8DST
Def

dystonin

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8MYO5A
Def

myosin VA

8TARDBP
Def

TAR DNA binding protein

8PSAP
Def

prosaposin

Possible

21 genes — click to expand
7GABBR2
Mod

gamma-aminobutyric acid type B receptor subunit 2

7CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 2

6MECP2
Def

methyl-CpG binding protein 2

6SHANK3
Def

SH3 and multiple ankyrin repeat domains 3

5GABBR1

gamma-aminobutyric acid type B receptor subunit 1

5GRID2

glutamate ionotropic receptor delta type subunit 2

5ATXN1

ataxin 1

5GTF2IRD1

GTF2I repeat domain containing 1

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4VAPB
Def

VAMP associated protein B and C

4ATP8A2
Def

ATPase phospholipid transporting 8A2

4GALC
Def

galactosylceramidase

4PRRT2
Def

proline rich transmembrane protein 2

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4MPZ
Def

myelin protein zero

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

4ASPA
Def

aspartoacylase

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4RELN
Def

reelin

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.