Genes associated with “MRT58”

48 genes foundOpen Targets: intellectual disability, autosomal recessive 5816 ClinVar P/LP variants
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
ELP2 →

elongator acetyltransferase complex subunit 2

25
score
GTR ↑

Intellectual developmental disorder, autosomal recessive 58

Frequency
-
P/LP Variants
16
OT Score
0.73

Consider

3 genes
13MRT58

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58; MRT58

10JAG1
Def

jagged canonical Notch ligand 1

10CHD7
Def

chromodomain helicase DNA binding protein 7

Possible

26 genes — click to expand
8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8CAMK2A
Def

calcium/calmodulin dependent protein kinase II alpha

8TARDBP
Def

TAR DNA binding protein

8MYO5A
Def

myosin VA

7NLGN3
Mod

neuroligin 3

6MECP2
Def

methyl-CpG binding protein 2

6CACNG2
Lim

calcium voltage-gated channel auxiliary subunit gamma 2

6TIMM8A
Def

translocase of inner mitochondrial membrane 8A

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4PCDH15
Def

protocadherin related 15

4MYO6
Def

myosin VI

4MYO7A
Def

myosin VIIA

4USH1C
Def

USH1 protein network component harmonin

4CDH23
Def

cadherin related 23

4MYO15A
Def

myosin XVA

4TMIE
Def

transmembrane inner ear

4PJVK
Def

pejvakin

4ASPA
Def

aspartoacylase

4EPG5
Def

ectopic P-granules 5 autophagy tethering factor

4GRXCR1
Def

glutaredoxin and cysteine rich domain containing 1

4LMX1A
Def

LIM homeobox transcription factor 1 alpha

4ESPN
Def

espin

4LRTOMT
Def

leucine rich transmembrane and O-methyltransferase domain containing

4LHFPL5
Def

LHFPL tetraspan subfamily member 5

4NAXD
Def

NAD(P)HX dehydratase

Related phenotype searches

Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaEpisodic ataxiaMuscular dystrophy

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