Repeat Disorders
STR: FAME3GRCh37 Position: 10356451-10356519
GRCh38 Position: 10356347-10356411
Repeated Sequence: TTTCA
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 660
MARCH6 (membrane associated ring-CH-type finger 6)
EnsemblGeneIds (GRCh38): ENSG00000145495
EnsemblGeneIds (GRCh37): ENSG00000145495
OMIM: 613297, Gene2Phenotype
MARCH6 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 unrelated European families with a heterozygous TTTCA(n) repeat expansion in intron 1 of the MARCHF6 gene. (TTTTA)n repeat is a polymorphic microsatellite with the number of TTTTA repeats ranging from 9 to 20; repeats containing TTTCA motifs were never observed in controls, indicating that the TTTCA repeats are the pathogenic part of the expansion similar to other FAMEs. Patient cells did not show any difference in MARCHF6 RNA or protein expression compared to controls, and there was no difference in the level of intron 1-containing RNA, thus excluding a massive accumulation of abnormally spliced mRNA carrying the expansion in these cells.
Sources: LiteratureCreated: 31 Aug 2021, 1:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial adult myoclonic, 3 MIM#613608
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- FAME3
- Chromosome
- 5
- GRCh37 Coordinates
- 10356451-10356519
- GRCh38 Coordinates
- 10356347-10356411
- Repeated Sequence
- TTTCA
- Normal Number of Repeats: <
- 0
- Pathogenic Number of Repeats: = or >
- 660
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epilepsy, familial adult myoclonic, 3 MIM#613608
- Tags
- OMIM
- 613297
- Clinvar variants
- Variants in MARCH6
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: FAME3.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fame3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fame3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FAME3 was added STR: FAME3 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME3 were set to 31664039 Phenotypes for STR: FAME3 were set to Epilepsy, familial adult myoclonic, 3 MIM#613608 Review for STR: FAME3 was set to GREEN STR: FAME3 was marked as clinically relevant