Genes associated with “HMND3

50 genes foundOpen Targets: spinal muscular atrophy27 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

3 genes
1
HSPB1

heat shock protein family B (small) member 1

29
score
ClinGen: DefinitiveGTR ↑

Charcot-Marie-Tooth disease, axonal, type 2F

Frequency
-
P/LP Variants
25
OT Score
0.82
2
DYNC1H1

dynein cytoplasmic 1 heavy chain 1

23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.82
3
ATP7A

ATPase copper transporting alpha

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.80

Consider

41 genes
19FKRP
Def

fukutin related protein

BICD cargo adaptor 2

16IGHMBP2
Def

immunoglobulin mu DNA binding protein 2

ubiquitin like modifier activating enzyme 1

15ASAH1
Def

N-acylsphingosine amidohydrolase 1

15BSCL2
Def

BSCL2 lipid droplet biogenesis associated, seipin

15TRPV4
Def

transient receptor potential cation channel subfamily V member 4

15HSPB8
Def

heat shock protein family B (small) member 8

15CHCHD10
Def

coiled-coil-helix-coiled-coil-helix domain containing 10

15PLEKHG5
Def

pleckstrin homology and RhoGEF domain containing G5

14DNAJB2
Def

DnaJ heat shock protein family (Hsp40) member B2

14GARS1
Def

glycyl-tRNA synthetase 1

13DCTN1
Mod

dynactin subunit 1

survival of motor neuron 1, telomeric

NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3; HMND3

13VAPB
Def

VAMP associated protein B and C

survival of motor neuron 2, centromeric

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

tRNA splicing endonuclease subunit 54

12EMILIN1
Def

elastin microfibril interfacer 1

VRK serine/threonine kinase 1

tRNA splicing endonuclease subunit 2

exosome component 3

11SLC5A7
Mod

solute carrier family 5 member 7

tRNA splicing endonuclease subunit 34

11FBXO38
Mod

F-box protein 38

11SPTAN1
Def

spectrin alpha, non-erythrocytic 1

exosome component 8

sigma non-opioid intracellular receptor 1

tRNA splicing endonuclease subunit 15

10SON
Def

SON DNA and RNA binding protein

exosome component 9

heat shock protein family B (small) member 3

receptor accessory protein 1

ATP/GTP binding carboxypeptidase 1

solute carrier family 25 member 46

phosphoglycerate kinase 1

8MPZ
Def

myelin protein zero

8BAG3
DefSF

BAG cochaperone 3

8PCCA
Def

propionyl-CoA carboxylase subunit alpha

8PNPO
Def

pyridoxamine 5'-phosphate oxidase

Possible

4 genes — click to expand
8MCCC2
Def

methylcrotonyl-CoA carboxylase subunit 2

activating signal cointegrator 1 complex subunit 1

7LAS1L
Lim

LAS1 like ribosome biogenesis factor

von Willebrand factor A domain containing 1

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