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

IllnessMicrocephaly + pontocerebellar hypoplasia, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + pontocerebellar hypoplasia comprising 3 guideline-curated genes, 13 guideline-curated core candidate genes and altogether 23 curated genes according to the clinical syspicion

ID
MP1230
Number of genes
19 Accredited laboratory test
Examined sequence length
17,2 kb (Core-/Core-canditate-Genes)
41,0 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
AMPD22478NM_001368809.2AR
CHMP1A591NM_002768.5AR
CLP11086NM_001142597.2AR
EXOSC8831NM_181503.3AR
RARS21737NM_020320.5AR
SEPSECS1506NM_016955.4AR
TBC1D232100NM_001199198.3AR
TSEN15390NM_001127394.4AR
TSEN21398NM_025265.4AR
TSEN34933NM_024075.5AR
TSEN541581NM_207346.3AR
VPS532499NM_001128159.3AR
COASY1695NM_025233.7AR
EXOSC3828NM_016042.4AR
EXOSC91426NM_001034194.2AR
PCLO14808NM_014510.3AR
TOE11488NM_025077.4AR
VPS512375
  • No OMIM-Gs linked
NM_013265.4AR
VRK11191NM_003384.3AR

Informations about the disease

Clinical Comment

Pontocerebellar hypoplasia type 1 (of 10), Norman's disease, clinically + genetically heterogeneous, prenatal onset, diffuse muscular atrophy secondary to pontocerebellar hypoplasia, spinal cord anterior horn cell degeneration resulting in early death

 

Synonyms
  • Alias: Microcephyly combined with pontocerebellar hypoplasia
  • Allelic: Dyskeratosis congenita, XL (DKC1)
  • Allelic: FG syndrome 4: ID, cong. hypotonia, constipation, behavior, dysmorphic features (CASK)
  • Allelic: Intellectual developmental disorder, with/-out nystagmus (CASK)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Harel-Yoon s.: delay psychomotor devel., ID, trunc hypotone, spasticity, periph. neuropathy (ATAD3A)
  • Hoyeraal-Hreidarsson syndrome: IUGR, microcephaly, delayed development, bone marrow failure (DKC1)
  • Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Pontocerebellar hypoplasia type 10 (CLP1)
  • Pontocerebellar hypoplasia type 11 (TBC1D23)
  • Pontocerebellar hypoplasia type 12 (COASY)
  • Pontocerebellar hypoplasia type 13 (VPS51)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 1B (EXOSC3)
  • Pontocerebellar hypoplasia type 1C (EXOSC8)
  • Pontocerebellar hypoplasia type 1D (EXOSC9)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2D (SESECS)
  • Pontocerebellar hypoplasia type 2E (VPS53)
  • Pontocerebellar hypoplasia type 2F (TSEN15)
  • Pontocerebellar hypoplasia type 3 (PCLO)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia type 6 (RARS2)
  • Pontocerebellar hypoplasia type 7 (TOE1)
  • Pontocerebellar hypoplasia type 8 (CHMP1A)
  • Pontocerebellar hypoplasia type 9 (AMPD2)
  • Pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q02

Bioinformatics and clinical interpretation

No text defined