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

IllnessHypomyelination-congenital cataract syndrome; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hypomyelination-congenital cataract syndrome comprising altogether 8 curated genes according to the clinical signs

ID
HP9948
Number of genes
8 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
14,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
HYCC11566NM_032581.4AR
GJC21320NM_020435.4AR
PLP1834NM_000533.5XLR
POLR1C1041NM_203290.4AR
POLR3A4173NM_007055.4AR
POLR3B3402NM_018082.6AR
POLR3K330NM_016310.5AR
TUBB4A1335NM_006087.4AD

Informations about the disease

Synonyms
  • Allelic: Dystonia 4, torsion, AD (TUBB4A)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Spastic paraplegia 2, XL (PLP1)
  • Allelic: Spastic paraplegia 44, AR (GJC2)
  • Allelic: Treacher Collins syndrome 3 (POLR1C)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 21 (POLR3K)
  • Leukodystrophy, hypomyelinating, 5 (FAM126A)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia and/or hypogonadotr. hypogonad. (POLR3A)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined