IllnessBranchio-oto-renal syndrome, differential diagnosis

Summary

Short information

A curated panel containing 3 genes for the comprehensive analysis of the genetically caused forms of the branchio-oto-renal syndrome

BP0080

Number of genes

3 Accredited laboratory test

Examined sequence length

4,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
EYA1	1779	601653	AD
SIX1	855	601205	AR
SIX5	2220	600963	AD

Informations about the disease

Clinical Comment

Branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of auricle with pre-auricular pits, conductive/sensorineural hearing impairment), renal malformations (urinary tree malformation, renal hypoplasia/agenesis, renal dysplasia, renal cysts)

Synonyms

Alias: Melnick-Fraser syndrome (EYA1)
Allelic: Anterior segment anomalies with/-out cataract (EYA1)
Allelic: Deafness, AD 23 (SIX1)
Branchiootic syndrome 1 (EYA1)
Branchiootic syndrome 3 (SIX1)
Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
Branchiootorenal syndrome 2 (SIX5)
Otofaciocervical syndrome (EYA1)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

Q87.8

Bioinformatics and clinical interpretation

No text defined