Genes associated with “MRXS13”

50 genes foundOpen Targets: X-linked intellectual disability-psychosis-macroorchidism syndrome
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
MECP2 →

methyl-CpG binding protein 2

31
score
ClinGen: DefinitiveGTR ↑

{Autism susceptibility, X-linked 3}

Frequency
-
P/LP Variants
77
OT Score
0.81

Consider

6 genes
13MRXS13

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13

13SCN1A
Def

sodium voltage-gated channel alpha subunit 1

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

10ARX
Def

aristaless related homeobox

10SHANK3
Def

SH3 and multiple ankyrin repeat domains 3

Possible

22 genes — click to expand
8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8ATP2B1

ATPase plasma membrane Ca2+ transporting 1

8ZIC1
Def

Zic family zinc finger 1

6FMR1
Def

fragile X messenger ribonucleoprotein 1

6KMT2D
Def

lysine methyltransferase 2D

6MYT1L
Def

myelin transcription factor 1 like

5SLC12A2

solute carrier family 12 member 2

5HIP1

huntingtin interacting protein 1

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4ASPA
Def

aspartoacylase

4NPC1
Def

NPC intracellular cholesterol transporter 1

4HSD17B4
Def

hydroxysteroid 17-beta dehydrogenase 4

4PCDH15
Def

protocadherin related 15

4MYO6
Def

myosin VI

4HCN1
Def

hyperpolarization activated cyclic nucleotide gated potassium channel 1

4MYO7A
Def

myosin VIIA

4KCNC2
Def

potassium voltage-gated channel subfamily C member 2

4CDH23
Def

cadherin related 23

4DDC
Def

dopa decarboxylase

4ESPN
Def

espin

4SHANK1
Def

SH3 and multiple ankyrin repeat domains 1

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.