Microphthalmia, Isolated 8; Mcop8

Clinical Features

Phenotypes and symptoms related to Microphthalmia, Isolated 8; Mcop8

  • Atrial septal defect
  • Microphthalmia
  • Autism
  • Coloboma
  • Pulmonic stenosis
  • Retinal detachment
  • Optic nerve hypoplasia
  • Anophthalmia
  • Entropion

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Microphthalmia, Isolated 8; Mcop8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Microphthalmia isolated 8 (sequence analysis of ALDH1A3 gene).

By CGC Genetics (Portugal).

ALDH1A3
Specificity
100 %
Genes
100 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics (Portugal).

BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP4, BMP7, SIX6, SOX2, RAX, VSX2, SMOC1, BCOR, CRYBA4, TENM3, STRA6, FOXE3, ALDH1A3, GDF6, HCCS, MITF, OTX2
Specificity
6 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center (Germany).

SALL2, BMP4, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, TGIF1, VAX1, ZIC2, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, VSX2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Microphthalmia syndromic type 8.

By Centogene AG - the Rare Disease Company (Germany).

ALDH1A3
Specificity
100 %
Genes
100 %
Microphthalmia panel.

By Centogene AG - the Rare Disease Company (Germany).

BMP4, SIX6, SOX2, RAX, VSX2, BCOR, TENM3, STRA6, ALDH1A3, HCCS, MITF, TENM1, OTX2
Specificity
8 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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