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Repeat Disorders

STR: FAME6

Red List (low evidence)
Chromosome: 16
GRCh37 Position: 24624761-24624850
GRCh38 Position: 24613440-24613529
Repeated Sequence: TTTCA
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 1

TNRC6A (trinucleotide repeat containing 6A)
EnsemblGeneIds (GRCh38): ENSG00000090905
EnsemblGeneIds (GRCh37): ENSG00000090905
OMIM: 610739, Gene2Phenotype
TNRC6A is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The expanded (TTTTA)22(TTTCA)exp(TTTTA)exp allele was identified 5 affected carriers in a single family. (TTTTA)18 is the reference repeats. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat.
Sources: Literature
Created: 29 Aug 2021, 4:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial adult myoclonic, 6 MIM#618074

Publications

Created: 29 Aug 2021, 4:40 a.m.

Panel version: 0.96

Details

Name
FAME6
Chromosome
16
GRCh37 Coordinates
24624761-24624850
GRCh38 Coordinates
24613440-24613529
Repeated Sequence
TTTCA
Normal Number of Repeats: <
0
Pathogenic Number of Repeats: = or >
1
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 6 MIM#618074
Tags
adult-onset
OMIM
610739
Clinvar variants
Variants in TNRC6A
Penetrance
None
Publications

History Filter Activity

10 Sep 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: FAME6.

29 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fame6 has been classified as Red List (Low Evidence).

29 Aug 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: FAME6 was added STR: FAME6 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME6 were set to 29507423 Phenotypes for STR: FAME6 were set to Epilepsy, familial adult myoclonic, 6 MIM#618074 Review for STR: FAME6 was set to RED