Locus FAME4 YEATS2

Disease ID
FAME4
Gene ID
YEATS2
Updated
Jun 15, 2026
v2.22.0
Other gene loci
–
Clinical Links
GARD
16758
GeneReviews
NBK535148
MalaCard
EPL107
MedGen
767474
Mondo
0014055
OMIM
615127
Orphanet
86814
DECIPHER
YEATS2
Bioinformatical Links
gnomAD
YEATS2
STRipy
YEATS2
TR-Atlas
TR38932
WebSTR hg38
5034940769177
WebSTR hg19
STR_1006941
TR Explorer
chr3:183712188-183712226
Suggest Edit

Disease

Name Familial adult myoclonic epilepsy 4
Inheritance
Autosomal dominant
Description
Cortical tremor, seizures with generalised motor (tonic-clonic) onset .
Prevalence
FAME overall is 1/35,000 in Japan. This repeat expansion is typically found in individuals of East Asian ancestry .
Age of Onset Age of Onset(Typical)Years10  330  0
Typical: 20-25 ; Range: 10-33 .
HPO Terms
–
Association
Mendelian

Locus

hg19 chr3:183429975-183430014
hg38 chr3:183712187-183712226
t2t chr3:186521667-186521706
Details
Novel insertion of ~1000 repeats observed to cause disease .
Mechanism
GoF?
RNA toxicity hypothesized .
Detection
Year
2019
Location in Gene
Intron 1
Gene Strand

Alleles

Ref. Motif
TTTTA
Ranges BenignIntermediatePathogenicUnits0  00  01,000  1,000
Benign (ref.)
–
Benign (gene)
–
Pathogenic (ref.)
TTTCA
Pathogenic (gene)
ATTTC
Unknown (ref.)
TTTTT, TGTTA
Unknown (gene)
TTTTT, ATGTT
Interruption (ref.)
–
Interruption (gene)
–

gnomAD

References

Direct supporting references for info on this page.

1
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese
The Lancet. Neurology · 2024-07-01
pmid:38876750
2
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
Patra,Yeetong, Surasawadee,Ausavarat, Roongroj,Bhidayasiri, Krisna,Piravej, Nath,Pasutharnchat, Tayard,Desudchit, Chaipat,Chunharas, Jakrin,Loplumlert, Chusak,Limotai, Kanya,Suphapeetiporn, Vorasuk,Shotelersuk
European journal of human genetics : EJHG · 2012-06-20
pmid:22713812
3
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Patra,Yeetong, Monnat,Pongpanich, Chalurmpon,Srichomthong, Adjima,Assawapitaksakul, Varote,Shotelersuk, Nithiphut,Tantirukdham, Chaipat,Chunharas, Kanya,Suphapeetiporn, Vorasuk,Shotelersuk
Brain : a journal of neurology · 2019-11-01
pmid:31539032

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.
Supphakorn,Rakwongkhachon, Monnat,Pongpanich, Chalurmpon,Srichomthong, Adjima,Assawapitaksakul, Siraprapa,Tongkobpetch, Kanokwan,Santawong, William A,Gahl, Chaipat,Chunharas, Guida,Landouré, Patra,Yeetong, Vorasuk,Shotelersuk
Epilepsia · 2026-03-24
pmid:41874439
Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Haruka,Urabe, Takashi,Nakajima, Satomi,Mitsuhashi, Kentaro,Ohta, Hidehiko,Fujinaka, Kiyoe,Goto, Aki,Sato
BMC medical genomics · 2025-11-11
pmid:41219789
FAME4-associating YEATS2 knockdown impairs dopaminergic synaptic integrity and leads to seizure-like behaviours in Drosophila melanogaster.
Luca,Lo Piccolo, Ranchana,Yeewa, Sureena,Pohsa, Titaree,Yamsri, Daniel,Calovi, Jutarop,Phetcharaburanin, Manida,Suksawat, Thanaporn,Kulthawatsiri, Vorasuk,Shotelersuk, Salinee,Jantrapirom
Progress in neurobiology · 2023-12-20
pmid:38128822