Global Variome shared LOVD
CEP63 (centrosomal protein 63kDa)
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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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Date
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Date
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Date
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Date
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ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00959
-
dysplasia, otodental, chromsome deletion syndrome
-
-
-
-
FADD, FGF3
-
-
01469
-
neutrophilia, hereditary
162830
-
-
-
CSF3R
-
-
02972
-
deafness, congenital, inner ear agenesis, microtia, and microdontia (deafness with LAMM)
610706
AR
-
-
FGF3
-
-
04214
-
retinal disease
-
-
48179
45682
ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408
-
-
00194
AFD1
dysostosis, acrofacial, type 1, (AFD-1, Nager type)
154400
AD
26
26
SF3B4
-
-
06412
AGM8
Agammaglobulinemia 8, autosomal dominant
616941
AD
-
-
TCF3
-
-
04212
BBS
Bardet-Biedl syndrome (BBS)
-
-
282
240
ARL6, BBS9, C8orf37, IFT74
-
-
05826
BBS21
Bardet-Biedl syndrome, type 21 (BBS21)
617406
AR
-
-
C8orf37
-
-
07055
BRYLIB
Bryant-Li-Bhoj neurodevelopmental syndrome
-
-
1
1
H3F3A, H3F3B
-
-
07053
BRYLIB1
Bryant-Li-Bhoj neurodevelopmental syndrome, type 1
619720
AD
-
-
H3F3A
-
-
07054
BRYLIB2
Bryant-Li-Bhoj neurodevelopmental syndrome, type 2
619721
AD
-
-
H3F3B
-
-
03988
CANDF8
candidiasis, familial, type 8 (CANDF-8)
615527
AR
-
-
TRAF3IP2
-
-
05219
CFM1;HFM
craniofacial microsomia (Goldenhar syndrome)
164210
AD
16
16
SF3B2
-
-
00332
CILD
dyskinesia, ciliary, primary (CILD)
-
-
219
211
C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12
-
-
02600
CILD2
dyskinesia, ciliary, primary, 2 (CILD-2)
606763
AR
-
-
DNAAF3
-
-
03590
CMAMMA
aciduria, combined malonic and methylmalonic (CMAMMA)
614265
-
1
1
ACSF3
-
-
03671
CORD16;RP64
dystrophy, cone-rod, type 16 (CORD16), retinitis pigmentosa, type 64 (RP64)
614500
AR
-
-
C8orf37
-
-
02424
DFNA15
deafness, autosomal dominant, type 15 (DFNA-15)
602459
AD
-
-
POU4F3
-
-
05921
HADDS
hypotonia, ataxia, and delayed development syndrome (HADDS)
617330
AD
2
2
EBF3
-
-
06518
HIES3
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
618282
AR
-
-
ZNF341
-
-
00139
ID
intellectual disability (ID)
-
-
2708
2390
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more
-
-
03750
IIAE5
encephalitis, Herpes simplex, susceptibility to, type 5
614849
-
-
-
TRAF3
-
-
04521
IIAE7
encephalitis, Herpes simplex?, susceptibility to, type 7
616532
AD
-
-
IRF3
-
-
05292
IMD
immunodeficiency (IMD)
-
-
153
149
ATP6AP1, GTF3A, IL7R, LAT, PTPRC
-
-
05895
INF
infertility
-
-
20
19
C14orf39, C9orf84
-
-
03396
KFS3
Klippel-Feil syndrome, type 3, autosomal dominant (KFS-3)
613702
-
1
1
GDF3
-
-
04515
LCDD
lacrimal duct defect? (LCDD)
149700
AR
-
-
IGSF3
-
-
00611
MC1DN
mitochondrial complex I deficiency, nuclear (MC1DN)
252010
AR
31
29
ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, TIMMDC1
-
-
06584
MC1DN18
Mi complex I deficiency, nuclear type 18
618240
AR
-
-
NDUFAF3
-
-
03398
MCOP7
microphthalmia, isolated, type 7 (MCOP-7)
613704
AD
-
-
GDF3
-
-
03397
MCOPCB6
microphthalmia, isolated, with coloboma, type 6 (MCOPCB6)
613703
AD;DD
-
-
GDF3, GDF6
-
-
00857
MCPH10
microcephaly, type 10, primary, autosomal recessive (MCPH-10)
615095
AR
1
-
ZNF335
-
-
00132
MDS
myelodysplastic syndrome (MDS)
614286
SMo
10
13
ASXL1, GATA2, PTPN11, SF3B1, TET2
-
-
06138
MRT67
Mental retardation, autosomal recessive 67
618295
AR
-
-
EIF3F
-
-
00836
MRX14
mental retardation, X-linked, syndromic, type 14 (MRX14)
300676
XLR
-
-
UPF3B
-
-
05611
NDD
neurodevelopmental disorder (NDD)
-
-
3875
3690
ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, 79 more
-
-
07057
NEDMLOB
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
620428
AR
-
-
CPSF3L
-
-
04187
POF
ovarian failure, premature (POF)
-
-
37
22
C14orf39, FOXL2, HFM1, MCM8, NOBOX, STAG3, SYCP2L
-
-
06898
POF18
ovarian failure, premature, type 18
619203
AR
-
-
C14orf39
-
-
03538
PSORS13
psoriasis, susceptibility to, type 13
614070
-
-
-
TRAF3IP2
-
-
00112
RP
retinitis pigmentosa (RP)
268000
-
1159
897
ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216
-
-
02290
RP11
retinitis pigmentosa, type 11 (RP11)
600138
AD
-
-
PRPF31
-
-
02361
RP18
retinitis pigmentosa, type 18 (RP18)
601414
AD
-
-
PRPF3
-
-
06966
RP89
retinitis pigmentosa, type 89
618955
AD
-
-
KIF3B
-
-
06009
SCN7
Neutropenia, severe congenital, 7, autosomal recessive
617014
AR
-
-
CSF3R
-
-
06455
SLSN9
Senior-Loken syndrome 9
616629
AR
-
-
TRAF3IP1
-
-
06487
SNIBFIS
Snijders Blok-Fisher syndrome
618604
AD
1
1
POU3F3
-
-
05562
SPGF
spermatogenic failure (SPGF)
-
-
96
94
ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DNAH2, DNALI1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, 6 more
-
-
06897
SPGF52
spermatogenic failure, type 52
619202
AR
-
-
C14orf39
-
-
02568
UAN
nephrolithiasis, uric acid, susceptibility to
605990
-
-
-
ZNF365
-
-
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