Aniridia 2; An2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Aniridia 2; An2

ELP4

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Aniridia 2; An2

Cataract
Optic atrophy
Depressivity
Rod-cone dystrophy
Glaucoma
Aniridia
Hypoplasia of the iris
Hypoplasia of the fovea
Sclerocornea
Lens subluxation

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.

Aniridia 2; An2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Focal epilepsy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). SYN1, ELP4, KCNT1, CHRNA2, CHRNA4, CHRNB2, SRPX2, GRIN2A, LGI1 Specificity 12 % Genes 100 %
Developmental Eye Disease panel. By Molecular Vision Laboratory (United States). BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...) View the complete list with 39 more genes Panel complete gene list BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10, POMT2, VSX2, B3GLCT, DCDC1, CHD7, BCOR, COL4A1, COX7B, CRX, TMEM98, CYP1B1, C12orf57, TENM3, STRA6, FKTN, ISPD, FOXC1, FOXC2, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HESX1, HMGB3, HMX1, LAMB2, LARGE1, LHX2, MAB21L2, NDP, OTX2, PAX2, PAX6, PITX2, PITX3, POMT1, RARB Specificity 2 % Genes 100 %
ELP4. By Fulgent Genetics Fulgent Genetics (United States). ELP4 Specificity 100 % Genes 100 %
Benign rolandic epilepsy. By Bioarray (Spain). ELP4 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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