Deutsch
IllnessMicrocephaly + pontocerebellar hypoplasia, differential diagnosis
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
20
Accredited laboratory test
Examined sequence length
18,9 kb (Core-/Core-canditate-Genes)
42,8 kb (Extended panel: incl. additional genes)
42,8 kb (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 | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| AMPD2 | 2478 | NM_001368809.2 | AR | |
| ATAD3A | 1761 | NM_001170535.3 | AR | |
| CHMP1A | 591 | NM_002768.5 | AR | |
| CLP1 | 1086 | NM_001142597.2 | AR | |
| EXOSC8 | 831 | NM_181503.3 | AR | |
| RARS2 | 1737 | NM_020320.5 | AR | |
| SEPSECS | 1506 | NM_016955.4 | AR | |
| TBC1D23 | 2100 | NM_001199198.3 | AR | |
| TSEN15 | 390 | NM_001127394.4 | AR | |
| TSEN2 | 1398 | NM_025265.4 | AR | |
| TSEN34 | 933 | NM_024075.5 | AR | |
| TSEN54 | 1581 | NM_207346.3 | AR | |
| VPS53 | 2499 | NM_001128159.3 | AR | |
| COASY | 1695 | NM_025233.7 | AR | |
| EXOSC3 | 828 | NM_016042.4 | AR | |
| EXOSC9 | 1426 | NM_001034194.2 | AR | |
| PCLO | 14808 | NM_014510.3 | AR | |
| TOE1 | 1488 | NM_025077.4 | AR | |
| VPS51 | 2375 |
| NM_013265.4 | AR |
| VRK1 | 1191 | NM_003384.3 | AR |
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
Bioinformatics and clinical interpretation
No text defined