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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)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ALDH1A31539AR
FOXE3960AD und/oder AR
MFRP1740AR
OTX2870AD
PAX21254AD
RAX1041AR
SOX2954AD
STRA62004AR
VSX21086AR
BCOR5166XLD und/oder SMu
BMP41227AD
COL4A15010AD und/oder Mult
ERCC1972AR
FAT113767AR
FOXC11662AD und/oder Dig und/oder SMu und/oder Sus
FRAS112039AR
FREM16540AD und/oder AR
FREM29510AR
GDF31095AD
GDF61368AD und/oder AR
GJA11149AD und/oder AR
GRIP13231AR
HCCS807XLD
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
MAB21L21080AD und/oder AR
MITF1260AD und/oder AR und/oder Sus
MYRF3506AD
NAA10663XL
NDUFB11462XL und/oder XLD
PAX61269AD und/oder AR
PITX2816AD und/oder Dig und/oder Sus
PRSS561812AR
RAB18621AR
RAB3GAP12946AR
RAB3GAP24182AR
RARB1347AD und/oder AR
SHH1389AD und/oder Dig
SIX6741AR
SMO2364AD
SMOC11308AR
TBC1D201212AR
TENM38100AR
TFAP2A1296AD
TMEM98681AD

Infos zur Erkrankung

Klinischer Kommentar
  1. 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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