Genes associated with “AMYLD1

59 genes foundOpen Targets: neuropathy
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

5 genes
1
TTR

transthyretin

30
score
ClinGen: DefinitiveACMG SFGTR ↑

[Dystransthyretinemic hyperthyroxinemia]

Frequency
-
P/LP Variants
174
OT Score
0.90
2
DMD

dystrophin

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
3
PMP22

peripheral myelin protein 22

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.88
4
MFN2

mitofusin 2

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
5
LMNA

lamin A/C

20
score
ClinGen: DefinitiveACMG SFGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89

Consider

47 genes
18PDHA1
Def

pyruvate dehydrogenase E1 subunit alpha 1

17MPZ
Def

myelin protein zero

17SCN4A
Def

sodium voltage-gated channel alpha subunit 4

16ARSA
Def

arylsulfatase A

16RYR1
DefSF

ryanodine receptor 1

16SOD1
Def

superoxide dismutase 1

16PEX6
Def

peroxisomal biogenesis factor 6

16SCN11A
Def

sodium voltage-gated channel alpha subunit 11

16GJB1
Def

gap junction protein beta 1

16DYSF
Def

dysferlin

16GDAP1
Def

ganglioside induced differentiation associated protein 1

16HEXA
Def

hexosaminidase subunit alpha

16PEX1
Def

peroxisomal biogenesis factor 1

16GALC
Def

galactosylceramidase

16FKRP
Def

fukutin related protein

16GMPPB
Def

GDP-mannose pyrophosphorylase B

16POMGNT1
Def

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

16NEFL
Def

neurofilament light chain

16POMT1
Def

protein O-mannosyltransferase 1

16IGHMBP2
Def

immunoglobulin mu DNA binding protein 2

16POMT2
Def

protein O-mannosyltransferase 2

16FKTN
Def

fukutin

16CAPN3
Def

calpain 3

16ANO5
Def

anoctamin 5

16HSPB1
Def

heat shock protein family B (small) member 1

16TTN
DefSF

titin

16KIF1A
Def

kinesin family member 1A

16PEX10
Def

peroxisomal biogenesis factor 10

16PEX12
Def

peroxisomal biogenesis factor 12

16COL6A2
Def

collagen type VI alpha 2 chain

16CYP27A1
Def

cytochrome P450 family 27 subfamily A member 1

16DES
DefSF

desmin

16DNM2
Def

dynamin 2

16COL6A3
Def

collagen type VI alpha 3 chain

solute carrier family 25 member 46

16TRPV4
Def

transient receptor potential cation channel subfamily V member 4

16LARGE1
Def

LARGE xylosyl- and glucuronyltransferase 1

16MTHFR
Def

methylenetetrahydrofolate reductase

16PEX2
Def

peroxisomal biogenesis factor 2

16DYNC1H1
Def

dynein cytoplasmic 1 heavy chain 1

16COL6A1
Def

collagen type VI alpha 1 chain

16NTRK1
Def

neurotrophic receptor tyrosine kinase 1

14POLG
Lim

DNA polymerase gamma, catalytic subunit

survival of motor neuron 1, telomeric

AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1

ribonucleotide reductase regulatory TP53 inducible subunit M2B

9PKP2
DefSF

Possible

3 genes — click to expand
7MYBPC3
DefSF
7MYL3
DefSF
7TNNI3
DefSF

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