ErkrankungPränatale Anophthalmie / Mikrophthalmie
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Pränatale Anophthalmie/ Mikrophthalmie mit 38 bzw. zusammengenommen 45 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0001
Anzahl Gene
44
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
11,5 kb (Core-/Basis-Gene)
128,7 kb (Erweitertes Panel)
128,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- Chorionzotten (CVS)
- Fruchtwasser (nach AC)
- Nabelschnurblut (NB)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ALDH1A3 | 1539 | AR | |
FOXE3 | 960 | AD und/oder AR | |
MFRP | 1740 | AR | |
OTX2 | 870 | AD | |
PAX2 | 1254 | AD | |
RAX | 1041 | AR | |
SOX2 | 954 | AD | |
STRA6 | 2004 | AR | |
VSX2 | 1086 | AR | |
BCOR | 5166 | XLD und/oder SMu | |
BMP4 | 1227 | AD | |
COL4A1 | 5010 | AD und/oder Mult | |
ERCC1 | 972 | AR | |
FAT1 | 13767 | AR | |
FOXC1 | 1662 | AD und/oder Dig und/oder SMu und/oder Sus | |
FRAS1 | 12039 | AR | |
FREM1 | 6540 | AD und/oder AR | |
FREM2 | 9510 | AR | |
GDF3 | 1095 | AD | |
GDF6 | 1368 | AD und/oder AR | |
GJA1 | 1149 | AD und/oder AR | |
GRIP1 | 3231 | AR | |
HCCS | 807 | XLD | |
KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
MAB21L2 | 1080 | AD und/oder AR | |
MITF | 1260 | AD und/oder AR und/oder Sus | |
MYRF | 3506 | AD | |
NAA10 | 663 | XL | |
NDUFB11 | 462 | XL und/oder XLD | |
PAX6 | 1269 | AD und/oder AR | |
PITX2 | 816 | AD und/oder Dig und/oder Sus | |
PRSS56 | 1812 | AR | |
RAB18 | 621 | AR | |
RAB3GAP1 | 2946 | AR | |
RAB3GAP2 | 4182 | AR | |
RARB | 1347 | AD und/oder AR | |
SHH | 1389 | AD und/oder Dig | |
SIX6 | 741 | AR | |
SMO | 2364 | AD | |
SMOC1 | 1308 | AR | |
TBC1D20 | 1212 | AR | |
TENM3 | 8100 | AR | |
TFAP2A | 1296 | AD | |
TMEM98 | 681 | AD |
Infos zur Erkrankung
Klinischer Kommentar
- Anophthalmie, Mikrophthalmie, Anophthalmos, Microphthalmos
Synonyme
- Alias: Prenatal anophthalmia/microphthalmia
- Allelic: Atrioventricular septal defect 3 (GJA1)
- Allelic: Cataract 11, syndromic, AR (PITX3)
- Allelic: Craniometaphyseal dysplasia, AR (GJA1)
- Allelic: Culler-Jones syndrome (GLI2)
- Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
- Allelic: Holoprosencephaly 3 (SHH)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Hypoplastic left heart syndrome 1 (GJA1)
- Allelic: Klippel-Feil syndrome 1, AD (GDF6)
- Allelic: Klippel-Feil syndrome 3, AD (GDF3)
- Allelic: Leber congenital amaurosis 17 (GDF6)
- Allelic: Linear skin defects with multiple congenital anomalies 1 (HCCS)
- Allelic: Multiple synostoses syndrome 4 (GDF6)
- Allelic: Ogden syndrome (NAA10)
- Allelic: Optic nerve hypoplasia + abnormalities of the CNS (SOX2)
- Allelic: Orofacial cleft 11 (BMP4)
- Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
- Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
- Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
- Allelic: Schizencephaly (SHH)
- Allelic: Single median maxillary central incisor (SHH)
- Allelic: Syndactyly, type III (GJA1)
- Allelic: Waardenburg syndrome, type 2A (MITF)
- Anterior segment dysgenesis 1, multiple subtypes (PITX3)
- Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
- Anterior segment dysgenesis 4 (PITX2)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Brain small vessel disease with/-out ocular anomalies (COL4A1)
- Branchiooculofacial syndrome (TFAP2A)
- CHARGE [Coloboma; Heart anomaly; Atresia, choanal; mental R, Genital + Ear anomal.] syndrome (CHD7)
- COMMAD syndrome (MITF)
- Cardiac-urogenital syndrome (MYRF)
- Cataract 1, multiple types (GJA8)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Colobomatous microphthalmia [panelapp] (FAT1)
- Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
- Curry-Jones syndrome, somatic mosaic (SMO)
- Fraser syndrome 1 (FRAS1)
- Fraser syndrome 2 (FREM2)
- Fraser syndrome 3 (GRIP1)
- Holoprosencephaly 9 (GLI2)
- Kabuki syndrome 1 (KMT2D)
- Linear skin defects with multiple congenital anomalies 2 (COX7B)
- Linear skin defects with multiple congenital anomalies 3 (NDFB11)
- Manitoba oculotrichoanal syndrome (FREM1)
- Microphthalmia with coloboma 3 (VSX2)
- Microphthalmia with coloboma 5 (SHH)
- Microphthalmia with coloboma 6 (GDF3)
- Microphthalmia with coloboma 6, digenic (GDF6)
- Microphthalmia with limb anomalies (SMOC1)
- Microphthalmia, isolated 2 (VSX2)
- Microphthalmia, isolated 3 (RAX)
- Microphthalmia, isolated 4 (GDF6)
- Microphthalmia, isolated 5 (MFRP)
- Microphthalmia, isolated 6 (PRSS56)
- Microphthalmia, isolated 7 (GDF3)
- Microphthalmia, isolated 8 (ALDH1A3)
- Microphthalmia, isolated, with coloboma 8 (STRA6)
- Microphthalmia, isolated, with coloboma 9 (TENM3)
- Microphthalmia, syndromic 1 (NAA10)
- Microphthalmia, syndromic 12 (RARB)
- Microphthalmia, syndromic 15 (TENM3)
- Microphthalmia, syndromic 2 (BCOR)
- Microphthalmia, syndromic 3 (SOX2)
- Microphthalmia, syndromic 5 (OTX2)
- Microphthalmia, syndromic 6 (BMP4)
- Microphthalmia, syndromic 9 (STRA6)
- Microphthalmia/coloboma and skeletal dysplasia syndrome (MAB21L2)
- Nanophthalmos 2 (MFRP)
- Nanophthalmos 4 (TMEM98)
- Neurooculocardiogenitourinary syndrome (WDR37)
- Oculodentodigital dysplasia, AR (GJA1)
- Optic disc anomalies with retinal and/or macular dystrophy (SIX6)
- Papillorenal syndrome (PAX2)
- Pontocerebellar hypoplasia, type 6 (RARS2)
- Warburg micro syndrome 1 (RAB3GAP1)
- Warburg micro syndrome 2 (RAB3GAP2)
- Warburg micro syndrome 3 (RAB18)
- Warburg micro syndrome 4 (TBC1D)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Sus
- AD und/oder Dig
- AD und/oder Dig und/oder SMu und/oder Sus
- AD und/oder Dig und/oder Sus
- AD und/oder Mult
- AD und/oder SMu und/oder Sus und/oder Impr
- AR
- XL
- XL und/oder XLD
- XLD
- XLD und/oder SMu
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q11.-
Bioinformatik und klinische Interpretation
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