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Interdisciplinary CompetenceMolecular Diagnostics

Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAniridia, differential diagnosis

Request form illness

Summary

Short information

A curated panel containing 8 genes for the comprehensive analysis of the genetically caused forms of aniridia

ID

AP4321

Number of genes

7 Accredited laboratory test

Examined sequence length

13,2 kb (Core-/Core-canditate-Genes)
15,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ELP4	1275	606985	NM_019040.5	AD
FOXC1	1662	601090	NM_001453.3	AD
ITPR1	8088	147265	NM_002222.7	AD, AR
PAX6	1269	607108	NM_000280.5	AD
PITX2	816	601542	NM_153427.2	AD
PITX3	909	602669	NM_005029.4	AD
TRIM44	1040	612298	NM_017583.6	AD

Informations about the disease

Clinical Comment

Congenital bilateral ocular malformation, complete or partial absence of the iris

Group of disorders

ORPHA:250923 Isolated aniridia

ORPHA:98557 Syndromic aniridia

Synonyms

Alias: Complete or partial absence of the iris
Allelic: Albinism, oculocutaneous, type IV (SLC45A2)
Allelic: Cataract 11, multiple types (PITX3)
Allelic: Cataract 11, syndromic, AR (PITX3)
Allelic: Cataract with late-onset corneal dystrophy (PAX6)
Allelic: Coloboma of optic nerve (PAX6)
Allelic: Coloboma, ocular (PAX6)
Allelic: Foveal hypoplasia 1 (PAX6)
Allelic: Keratitis (PAX6)
Allelic: Morning glory disc anomaly (PAX6)
Allelic: Optic nerve hypoplasia (PAX6)
Allelic: Ring dermoid of cornea (PITX2)
Allelic: Skin/hair/eye pigmentation 5, black/nonblack hair (SLC45A2)
Allelic: Skin/hair/eye pigmentation 5, dark/fair skin (SLC45A2)
Allelic: Skin/hair/eye pigmentation 5, dark/light eyes (SLC45A2)
Allelic: Spinocerebellar ataxia 15 (ITPR1)
Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
Aniridia (PAX6)
Aniridia 2 (ELP4)
Aniridia 3 (TRIM44)
Anterior segment dysgenesis 1, multiple subtypes (PITX3)
Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
Anterior segment dysgenesis 4 (PITX2)
Anterior segment dysgenesis 5, multiple subtypes (PAX6)
Axenfeld-Rieger syndrome, type 1 (PITX2)
Axenfeld-Rieger syndrome, type 3 (FOXC1)
Gillespie syndrome [aniridia, cerebellar ataxia, mental retardation] (ITPR1)

Heredity, heredity patterns etc.

AD
AR

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined