Global Variome shared LOVD
TVP23A (trans-golgi network vesicle protein 23 homo...)
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Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
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27 entries on 1 page. Showing entries 1 - 27.
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01333
ADERM
adermatoglyphia (ADERM)
136000
AD
-
-
SMARCAD1
-
-
00156
CSS
Coffin-Siris syndrome (CSS)
-
-
285
255
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11
-
-
05797
CSS11
Coffin-Siris syndrome, type 11 (CSS11)
618779
AD
-
-
SMARCD1
-
-
00756
CSS3;MRD15
Coffin-Siris syndrome, type 3 (CSS3, mental retardation, autosomal dominant syndrome, type 15 (MRD15))
614608
AD
-
-
SMARCB1
-
-
01018
CSS4;MRD16
Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16))
614609
AD
2
2
SMARCA4
-
-
05386
CSS5
Coffin-Siris syndrome, type 5 (CSS5)
616938
AD
-
-
SMARCE1
-
autosomal dominant
05795
CSS8
Coffin-Siris syndrome, type 8 (CSS8)
618362
AR
-
-
SMARCC2
-
neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
05408
FAME
epilepsy, myoclonic, familial adult (FAME)
-
-
69
68
CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2
-
autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
05587
FAME3;FMCTE3
epilepsy, myoclonic, familial adult, type 3 (FAME3, FMCTE3)
613608
AD
-
-
MARCH6
-
autosomal dominant
01196
FY
blood group system, Dyffy
110700
AD;AR
-
-
DARC
-
-
06608
HRZ
Huriez syndrome
181600
AD
-
-
SMARCAD1
-
-
07009
HYC
hydrocephalus
-
-
13
13
SMARCC1, TRIM71
-
-
07008
HYC5
hydrocephalus, congenital, type 5, susceptibility
620241
AD
-
-
SMARCC1
-
-
00139
ID
intellectual disability (ID)
-
-
2700
2382
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more
-
-
02638
meningioma
meningioma, familial, susceptibility to
607174
AD
65
65
MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU
-
-
00309
MLRS
malaria, susceptibility to
611162
-
3
1
CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF
-
-
00157
NCBRS
Nicolaides-Baraitser syndrome (NCBRS)
601358
AD
94
62
SMARCA2
-
-
05296
OI
osteogenesis imperfecta
-
-
4591
1414
BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, KIF5B, MBTPS2, MESDC2, P3H1, PHLDB1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
-
-
04672
OI17
osteogenesis imperfecta, type XVII (OI17)
616507
AR
2
2
SPARC
-
-
00755
RTPS1
tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1)
609322
-
149
148
SMARCB1
-
-
01017
RTPS2
tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2)
613325
AD
8
8
SMARCA4
-
-
06340
SGD2
Specific granule deficiency 2
617475
AR
-
-
SMARCD2
-
-
01871
SIOD
Schimke immunoosseous dysplasia
242900
AR
1
1
SMARCAL1
-
-
06115
SSMG;SRMMD
short stature-micrognathia syndrome
617164
AD
1
1
ARCN1
-
-
05389
SWNTS
Schwannomatosis (SWNTS)
-
-
89
88
LZTR1, NF2, SMARCB1
-
-
00436
SWNTS1
Schwannomatosis, type 1 (SWNTS-1)
162091
-
55
24
SMARCB1
-
-
03064
WBCQ1
White blood cell count quantitative trait locus 1
611862
AR
-
-
DARC
-
-
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