IllnessMartsolf syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Martsolf syndrome comprising altogether 2 curated genes according to the clinical signs
ID
MP9238
Number of genes
15
Accredited laboratory test
Examined sequence length
9,0 kb (Core-/Core-canditate-Genes)
29,0 kb (Extended panel: incl. additional genes)
29,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
RAB18 | 621 | AR | |
RAB3GAP1 | 2946 | AR | |
RAB3GAP2 | 4182 | AR | |
TBC1D20 | 1212 | AR | |
ALDH18A1 | 2388 | AD, AR | |
DHCR7 | 1428 | AR | |
ERCC1 | 972 | AR | |
ERCC2 | 2283 | AR | |
ERCC5 | 3561 | AR | |
ERCC6 | 4482 | AR | |
ERCC8 | 1191 | AR | |
ITPA | 585 | AR | |
PEX11B | 780 | AR | |
PYCR1 | 960 | AR | |
SIL1 | 1386 | AR |
Informations about the disease
Synonyms
- Comp.: RAB18 deficiency + (Warburg-)micro syndrome
- Alias: Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom
- Alias: RAB18-Defizienz
- Allelic: Cockayne syndrome, type B (ERCC6)
- Allelic: De Sanctis-Cacchione syndrome (ERCC6)
- Allelic: Lung cancer, susceptibility to (ERCC6)
- Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
- Allelic: Premature ovarian failure 11 (ERRC6)
- Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
- Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
- Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
- Allelic: UV-sensitive syndrome 1 (ERCC6)
- Allelic: UV-sensitive syndrome 2 (ERCC8)
- Allelic: Xeroderma pigmentosum, group D (ERCC2)
- Allelic: Xeroderma pigmentosum, group G (ERCC5)
- Allelic: Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cerebrooculofacioskeletal syndrome 2 (ERCC2)
- Cerebrooculofacioskeletal syndrome 3 (ERCC5)
- Cerebrooculofacioskeletal syndrome 4 (ERCC1)
- Cutis laxa, AD 3 (ALDH18A1)
- Cutis laxa, AR, type IIB (PYCR1)
- Cutis laxa, AR, type IIIA (ALDH18A1)
- Cutis laxa, AR, type IIIB (PYCR1)
- Developmental + epileptic encephalopathy 35 (ITPA)
- Inosine triphosphatase deficiency (ITPA)
- Marinesco-Sjogren syndrome (SIL1)
- Martsolf syndrome (RAPGAP1)
- Martsolf syndrome (RAPGAP2)
- Peroxisome biogenesis disorder 14B (PEX11B)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Warburg micro syndrome type 1 (RAB3GAP1)
- Warburg micro syndrome type 2 (RAB3GAP2)
- Warburg micro syndrome type 3 (RAB18)
- Warburg micro syndrome type 4 (TBC1D20)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatics and clinical interpretation
No text defined