GenTIGS

Lists of Rare Genetic Disorders

Juvenile Myopathy, Encephalopathy, Lactic Acidosis AND Stroke(MELAS syndrome)
An MT inheritance mode(s) within the Metabolic disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	MT-TL1/4567	mitochondrially encoded tRNA leucine 1 (UUA/G)	-	ChrMT, NC_012920.1 (3230..3304)	75 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	MT-ND6/4541	mitochondrially encoded NADH dehydrogenase 6	-	ChrMT, NC_012920.1 (14149..14673, complement)	525 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	MT-ND5/4540	mitochondrially encoded NADH dehydrogenase 5	-	ChrMT, NC_012920.1 (12337..14148)	1812 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	MT-ND1/4535	mitochondrially encoded NADH dehydrogenase 1	-	ChrMT, NC_012920.1 (3307..4262)	956 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	NDUFS1/4719	NADH:ubiquinone oxidoreductase core subunit S1	2q33.3	Chr2, NC_000002.12 (206114817..206159444, complement)	44628 nt	20	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	MT-TR/4573	mitochondrially encoded tRNA arginine	-	ChrMT, NC_012920.1 (10405..10469)	65 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	MT-TH/4564	mitochondrially encoded tRNA histidine	-	ChrMT, NC_012920.1 (12138..12206)	69 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	MT-TS2/4575	mitochondrially encoded tRNA serine 2 (AGU/C)	-	ChrMT, NC_012920.1 (12207..12265)	59 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	MT-TL2/4568	mitochondrially encoded tRNA leucine 2 (CUN)	-	ChrMT, NC_012920.1 (12266..12336)	71 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	MT-TE/4556	mitochondrially encoded tRNA glutamic acid	-	ChrMT, NC_012920.1 (14674..14742, complement)	69 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	MT-TT/4576	mitochondrially encoded tRNA threonine	-	ChrMT, NC_012920.1 (15888..15953)	66 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	MT-TP/4571	mitochondrially encoded tRNA proline	-	ChrMT, NC_012920.1 (15956..16023, complement)	68 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	MT-TV/4577	mitochondrially encoded tRNA valine	-	ChrMT, NC_012920.1 (1602..1670)	69 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	MT-TI/4565	mitochondrially encoded tRNA isoleucine	-	ChrMT, NC_012920.1 (4263..4331)	69 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	MT-TQ/4572	mitochondrially encoded tRNA glutamine	-	ChrMT, NC_012920.1 (4329..4400, complement)	72 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	MT-TM/4569	mitochondrially encoded tRNA methionine	-	ChrMT, NC_012920.1 (4402..4469)	68 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	MT-TW/4578	mitochondrially encoded tRNA tryptophan	-	ChrMT, NC_012920.1 (5512..5579)	68 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	MT-TF/4558	mitochondrially encoded tRNA phenylalanine	-	ChrMT, NC_012920.1 (577..647)	71 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	MT-TD/4555	mitochondrially encoded tRNA aspartic acid	-	ChrMT, NC_012920.1 (7518..7585)	68 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	MT-TK/4566	mitochondrially encoded tRNA lysine	-	ChrMT, NC_012920.1 (8295..8364)	70 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	MT-TG/4563	mitochondrially encoded tRNA glycine	-	ChrMT, NC_012920.1 (9991..10058)	68 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	MT-CYB/4519	mitochondrially encoded cytochrome b	-	ChrMT, NC_012920.1 (14747..15887)	1141 nt	0	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development