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Search: '271245 606075 (Search in: MIM number)'
Results: 2 entries.

1:
* 606075. TWINKLE mtDNA HELICASE; TWNK
TWINKY, INCLUDED
Cytogenetic location: 10q24.31, Genomic coordinates (GRCh38): 10:100,987,543-100,994,403
Matching terms: 606075
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 AR 3
Perrault syndrome 5 616138 AR 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 AD 3
ICD+
SNOMEDCT: 724227000

2:
# 271245. MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7
Cytogenetic location: 10q24.31
Matching terms: 271245
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 AR 3 TWNK 606075
Mitochondrial DNA depletion syndrome - PS603041 - 24 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
2p23.3 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) AR 3 256810 MPV17 137960
2p13.1 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) AR 3 251880 DGUOK 601465
2p11.2 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) AR 3 245400 SUCLG1 611224
3q29 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) AR 3 616896 OPA1 605290
4q35.1 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD AD 3 617184 SLC25A4 103220
4q35.1 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR AR 3 615418 SLC25A4 103220
6q16.1-q16.2 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 3 615471 FBXL4 605654
7p22.3 Mitochondrial DNA depletion syndrome 17 AR 3 618567 MRM2 606906
7q34 Sengers syndrome AR 3 212350 AGK 610345
8q22.3 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) AR 3 612075 RRM2B 604712
8q22.3 Mitochondrial DNA depletion syndrome 8B (MNGIE type) AR 3 612075 RRM2B 604712
10q21.1 ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) AR 3 617156 TFAM 600438
10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) AR 3 271245 TWNK 606075
13q14.2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) AR 3 612073 SUCLA2 603921
14q13.3 ?Mitochondrial DNA depletion syndrome 18 AR 3 618811 SLC25A21 607571
15q26.1 Mitochondrial DNA depletion syndrome 4B (MNGIE type) AR 3 613662 POLG 174763
15q26.1 Mitochondrial DNA depletion syndrome 4A (Alpers type) AR 3 203700 POLG 174763
16q21 Mitochondrial DNA depletion syndrome 2 (myopathic type) AR 3 609560 TK2 188250
17q12 Mitochondrial DNA depletion syndrome 20 (MNGIE type) AR 3 619780 LIG3 600940
17q23.3 ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) AR 3 619425 POLG2 604983
17q23.3 ?Mitochondrial DNA depletion syndrome 16 (hepatic type) AR 3 618528 POLG2 604983
17q25.3 ?Mitochondrial DNA depletion syndrome 19 AR 3 618972 SLC25A10 606794
20p11.23 Mitochondrial DNA depletion syndrome 11 AR 3 615084 MGME1 615076
22q13.33 Mitochondrial DNA depletion syndrome 1 (MNGIE type) AR 3 603041 TYMP 131222
ICD+
SNOMEDCT: 724227000
ORPHA: 1186, 363534
DO: 0080126
Search: 271245 606075 (Search in: MIM number)
Results: 2 entries.

1:
* 606075. TWINKLE mtDNA HELICASE; TWNK
TWINKY, INCLUDED
Cytogenetic location: 10q24.31, Genomic coordinates (GRCh38): 10:100,987,543-100,994,403
Matching terms: 606075

2:
# 271245. MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7
Cytogenetic location: 10q24.31
Matching terms: 271245