Genes associated with “SSADHD

46 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

8 genes
13SCN1A
Def

sodium voltage-gated channel alpha subunit 1

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

11DNM1
Def

dynamin 1

calcium voltage-gated channel subunit alpha1 A

10KCNQ2
Def

potassium voltage-gated channel subfamily Q member 2

8GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

8MYO5A
Def

myosin VA

Possible

22 genes — click to expand
8AKT3
Def

AKT serine/threonine kinase 3

8LGI1
Def

leucine rich glioma inactivated 1

8UBE3A
Def

ubiquitin protein ligase E3A

8DST
Def

dystonin

calcium voltage-gated channel auxiliary subunit alpha2delta 2

6HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

6SLC2A1
Def

solute carrier family 2 member 1

6MECP2
Def

methyl-CpG binding protein 2

6PMP22
Def

peripheral myelin protein 22

CUGBP Elav-like family member 4

sulfotransferase family 4A member 1

adaptor related protein complex 3 subunit beta 2

4CHRNA4
Def

cholinergic receptor nicotinic alpha 4 subunit

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4SCN1B
Def

sodium voltage-gated channel beta subunit 1

4SZT2
Def

SZT2 subunit of KICSTOR complex

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4HTT
Def

huntingtin

4ITPR1
Def

inositol 1,4,5-trisphosphate receptor type 1

TBC1 domain family member 24

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

3SLC9A1
Mod

solute carrier family 9 member A1

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