Deutsch
IllnessGM1-Gangliosidosis type III, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for GM1-gangliosidosis type III containing 1 guideline-curated core gene, 5 guideline-mentioned core candidate genes and altogether 26 curated genes according to the clinical signs
ID
GP0919
Number of loci
| Locus type | Count |
|---|---|
| Gen | 26 |
Examined sequence length
8,3 kb (Core-/Core-canditate-Genes)
59,4 kb (Extended panel: incl. additional genes)
59,4 kb (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CLN6 | 936 | NM_017882.3 | AR | |
| CTSF | 1455 | NM_003793.4 | AR | |
| DNAJC5 | 597 | NM_025219.3 | AR | |
| GLB1 | 2034 | NM_000404.4 | AR | |
| HEXA | 1590 | NM_000520.6 | AR | |
| HEXB | 1671 | NM_000521.4 | AR | |
| AR | 2763 | NM_000044.6 | XLR | |
| ATP7B | 4398 | NM_000053.4 | AR | |
| C9orf72 | 1446 | NM_018325.5 | AD | |
| CHCHD10 | 429 | NM_213720.3 | AD | |
| DNAJC6 | 2913 | NM_001256864.2 | AR | |
| FBXO7 | 1332 | NM_001033024.2 | AR | |
| FUS | 1581 | NM_004960.4 | AD | |
| FXN | 633 | NM_000144.5 | AR | |
| GALNS | 1569 | NM_000512.5 | AR | |
| HTT | 9429 | NM_002111.8 | AD, AR | |
| PARK7 | 570 | NM_007262.5 | AR | |
| PINK1 | 1746 | NM_032409.3 | AR | |
| PRKN | 1398 | NM_004562.3 | AR | |
| SMN1 | 885 | NM_000344.4 | AR | |
| SOD1 | 465 | NM_000454.5 | AD, AR | |
| SYNJ1 | 4839 | NM_003895.3 | AR | |
| TARDBP | 1245 | NM_007375.4 | AD | |
| TFG | 1203 | NM_006070.6 | AR | |
| VAPB | 732 | NM_004738.5 | AD | |
| VPS13C | 11512 | NM_001018088.3 | AR |
Informations about the disease
Synonyms
- Alias: Beta-galactosidase-1 deficiency
- Alias: Infantile GM1 gangliosidosis
- Alias: Landing disease, Norman-Landing disease
- Allelic: Hypospadias 1, XL (AR)
- Allelic: Lopes-Maciel-Rodan syndrome (HTT)
- Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
- Allelic: Spinal muscular atrophy, Jokela type (CHCHD10
- Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
- Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
- Amyotrophic lateral sclerosis 8 (VAPB)
- Androgen insensitivity (AR)
- Androgen insensitivity, partial (AR)
- Ceroid lipofuscinosis, neuronal, 13, Kufs type, AD (CTSF)
- Ceroid lipofuscinosis, neuronal, 4A, Kufs type, (CLN6)
- Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
- Ceroid lipofuscinosis, neuronal, 6 (CLN6)
- Essential tremor, hereditary, 4 (FUS)
- Friedreich ataxia (FXN)
- Friedreich ataxia with retained reflexes (FXN)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
- Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
- GM1-gangliosidosis, type I (GLB1)
- GM1-gangliosidosis, type II (GLB1)
- GM1-gangliosidosis, type III (GLB1)
- GM2-gangliosidosis, several forms (HEXA)
- Hereditary motor and sensory neuropathy, Okinawa type (TFG)
- Hex A pseudodeficiency (HEXA)
- Huntington disease (HTT_CAG)
- Mucopolysaccharidosis IVA (GALNS)
- Mucopolysaccharidosis type IVB, Morquio (GLB1)
- Parkinson disease 15, AR (FBXO7)
- Parkinson disease 19a, juvenile-onset (DNAJC6)
- Parkinson disease 19b, early-onset (DNAJC6)
- Parkinson disease 23, AR, early onset (VPS13C)
- Parkinson disease 6, early onset (PINK1)
- Parkinson disease 7, AR early-onset (PARK7)
- Parkinson disease, juvenile, type 2 (PRKN)
- Sandhoff disease, infantile, juvenile + adult forms (HEXB)
- Spastic paraplegia 57, AR (TFG)
- Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
- Spinal muscular atrophy, late-onset, Finkel type (VAPB)
- Spinal muscular atrophy-1-4 (SMN1)
- Tay-Sachs disease (HEXA)
- Wilson disease (ATP7B)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined