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Repeat Disorders

STR: FAME4

Red List (low evidence)
Chromosome: 3
GRCh37 Position: 183429976-183430010
GRCh38 Position: 183712188-183712222
Repeated Sequence: TTTCA
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 192

YEATS2 (YEATS domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000163872
EnsemblGeneIds (GRCh37): ENSG00000163872
OMIM: 613373, Gene2Phenotype
YEATS2 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

13 affected members of a single Thai family with familial adult myoclonic epilepsy-4 with a heterozygous (TTTTA)n/TTTCA(n) repeat expansion in intron 1 of the YEATS2 gene. 1 affected family member was estimated to be (TTTTA)819/(TTTCA)221, whereas a control had (TTTTA)7/(TTTTA)8. No functional analysis, but RNA toxicity is expected to be the mechanism of disease.
Sources: Literature
Created: 31 Aug 2021, 12:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, myoclonic, familial adult, 4 MIM#615127

Publications

Created: 31 Aug 2021, 12:40 a.m.

Panel version: 0.115

Details

Name
FAME4
Chromosome
3
GRCh37 Coordinates
183429976-183430010
GRCh38 Coordinates
183712188-183712222
Repeated Sequence
TTTCA
Normal Number of Repeats: <
0
Pathogenic Number of Repeats: = or >
192
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epilepsy, myoclonic, familial adult, 4 MIM#615127
Tags
adult-onset
OMIM
613373
Clinvar variants
Variants in YEATS2
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: FAME4.

31 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fame4 has been classified as Red List (Low Evidence).

31 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: FAME4 was added STR: FAME4 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME4 were set to 31539032 Phenotypes for STR: FAME4 were set to Epilepsy, myoclonic, familial adult, 4 MIM#615127 Review for STR: FAME4 was set to RED