Genes associated with “MATINS”

Diagnostic yield calculator →
48 genes foundOpen Targets: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
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

2 genes
1
MYH9 →

myosin heavy chain 9

34
score
ClinGen: DefinitiveGTR ↑

Deafness, autosomal dominant 17

Frequency
-
P/LP Variants
117
OT Score
0.86
2
NF1 →

neurofibromin 1

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.30

Consider

2 genes
13TUBB1
Def

tubulin beta 1 class VI

13MATINS

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

Possible

30 genes — click to expand
8KIT
Def

KIT proto-oncogene, receptor tyrosine kinase

8COL4A1
Def

collagen type IV alpha 1 chain

8NBEAL2
Def

neurobeachin like 2

8AP3B1
Def

adaptor related protein complex 3 subunit beta 1

5WDR1

WD repeat domain 1

5CDKN1C
Str

cyclin dependent kinase inhibitor 1C

5PDGFRB

platelet derived growth factor receptor beta

4VWF
Def

von Willebrand factor

4FOXE3
Def

forkhead box E3

4GP1BB
Def

glycoprotein Ib platelet subunit beta

4DTNBP1
Def

dystrobrevin binding protein 1

4ENTPD1
Def

ectonucleoside triphosphate diphosphohydrolase 1

4HPS1
Def

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

4ITGA2B
Def

integrin subunit alpha 2b

4BLOC1S5
Def

biogenesis of lysosomal organelles complex 1 subunit 5

4ITGB3
Def

integrin subunit beta 3

4ABCG5
Def

ATP binding cassette subfamily G member 5

4FERMT3
Def

FERM domain containing kindlin 3

4STIM1
Def

stromal interaction molecule 1

4MPIG6B
Def

megakaryocyte and platelet inhibitory receptor G6b

4MPL
Def

MPL proto-oncogene, thrombopoietin receptor

4P2RY12
Def

purinergic receptor P2Y12

4VPS33A
Def

VPS33A core subunit of CORVET and HOPS complexes

4PROS1
Def

protein S

4UMOD
Def

uromodulin

4RAB27A
Def

RAB27A, member RAS oncogene family

4THPO
Def

thrombopoietin

4C9ORF72
Def

C9orf72-SMCR8 complex subunit

4HPS3
Def

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

4FGA
Def

fibrinogen alpha chain

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.