Genes associated with “SEMDHL

49 genes foundOpen Targets: combined oxidative phosphorylation 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
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Strong Candidates

1 gene
1
AIFM1

apoptosis inducing factor mitochondria associated 1

33
score
ClinGen: DefinitiveGTR ↑

Combined oxidative phosphorylation deficiency 6

Frequency
-
P/LP Variants
5
OT Score
0.82

Consider

47 genes
15MTFMT
Def

mitochondrial methionyl-tRNA formyltransferase

15ELAC2
Def

elaC ribonuclease Z 2

15RMND1
Def

required for meiotic nuclear division 1 homolog

15FARS2
Def

phenylalanyl-tRNA synthetase 2, mitochondrial

15TRIT1
Def

tRNA isopentenyltransferase 1

15MTO1
Def

mitochondrial tRNA translation optimization 1

15MRPS22
Def

mitochondrial ribosomal protein S22

15VARS2
Def

valyl-tRNA synthetase 2, mitochondrial

15AARS2
Def

alanyl-tRNA synthetase 2, mitochondrial

15FASTKD2
Def

FAST kinase domains 2

ATP synthase F1 subunit alpha

solute carrier family 25 member 26

14MTRFR
Def

mitochondrial translation release factor in rescue

14SFXN4
Def

sideroflexin 4

14EARS2
Def

glutamyl-tRNA synthetase 2, mitochondrial

14TSFM
Def

Ts translation elongation factor, mitochondrial

14PNPT1
Mod

polyribonucleotide nucleotidyltransferase 1

14TUFM
Mod

Tu translation elongation factor, mitochondrial

14GFM1
Mod

G elongation factor mitochondrial 1

14PRORP
Def

protein only RNase P catalytic subunit

13GFM2
Mod

GTP dependent ribosome recycling factor mitochondrial 2

13MRPL3
Mod

mitochondrial ribosomal protein L3

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY; SEMDHL

13MRPL44
Def

mitochondrial ribosomal protein L44

13MARS2
Def

methionyl-tRNA synthetase 2, mitochondrial

12MT-ATP6
Def

mitochondrially encoded ATP synthase membrane subunit 6

RNA polymerase mitochondrial

glutaminyl-tRNA amidotransferase subunit QRSL1

11MICOS13
Def

mitochondrial contact site and cristae organizing system subunit 13

11PTCD3
Lim

pentatricopeptide repeat domain 3

chromosome 2 open reading frame 69

mitochondrial ribosomal protein S2

11ATPAF2
Lim

ATP synthase mitochondrial F1 complex assembly factor 2

11MRPL39
Mod

mitochondrial ribosomal protein L39

NOP2/Sun RNA methyltransferase 3

LYR motif containing 4

10MIPEP
Mod

mitochondrial intermediate peptidase

cardiolipin synthase 1

TAM41 mitochondrial translocator assembly and maintenance homolog

NFS1 cysteine desulfurase

9MRPS7
Lim

mitochondrial ribosomal protein S7

9MRPS16
Lim

mitochondrial ribosomal protein S16

8TIMM22
Lim

translocase of inner mitochondrial membrane 22

8MRPS28
Lim

mitochondrial ribosomal protein S28

transmembrane protein 151B

eukaryotic translation elongation factor 1 alpha 1

Possible

1 gene — click to expand

ATP synthase F1 subunit epsilon

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