Genes associated with “MTDPS4A”

Diagnostic yield calculator →
49 genes foundOpen Targets: mitochondrial DNA depletion syndrome 4a
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
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Strong Candidates

2 genes
1
POLG →

DNA polymerase gamma, catalytic subunit

28
score
ClinGen: LimitedGTR ↑

Mitochondrial DNA depletion syndrome 4A (Alpers type)

Frequency
-
P/LP Variants
499
OT Score
0.85
2
FANCI →

FA complementation group I

23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.57

Consider

9 genes
20POLGARF

POLG alternative reading frame

13RLBP1
Def

retinaldehyde binding protein 1

13MTDPS4A

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10PMP22
Def

peripheral myelin protein 22

10RANBP2
Mod
8MYO5A
Def

myosin VA

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

Possible

19 genes — click to expand
8RELN
Def

reelin

6MECP2
Def

methyl-CpG binding protein 2

6PLP1
Def

proteolipid protein 1

5MTDPS4B

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

4IL7R
Def

interleukin 7 receptor

4FAS
Def

Fas cell surface death receptor

4CSTB
Def

cystatin B

4SLC6A5
Def

solute carrier family 6 member 5

4DST
Def

dystonin

4ASPA
Def

aspartoacylase

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4LAMA2
Def

laminin subunit alpha 2

4GALC
Def

galactosylceramidase

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4PSAP
Def

prosaposin

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4TARDBP
Def

TAR DNA binding protein

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4PPT1
Def

palmitoyl-protein thioesterase 1

Related phenotype searches

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