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Repeat Disorders

STR: FAME7

Amber List (moderate evidence)
Chromosome: 4
GRCh37 Position: 160263679-160263768
GRCh38 Position: 159342527-159342616
Repeated Sequence: TTTCA
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 1

RAPGEF2 (Rap guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000109756
EnsemblGeneIds (GRCh37): ENSG00000109756
OMIM: 609530, Gene2Phenotype
RAPGEF2 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

TTTCA expansion (without TTTTA expansion) identified in 3 affected individuals in a Chinese FAME family and another unrelated Japanese proband. Now 3 families reported.
Created: 7 Apr 2024, 3:41 a.m. | Last Modified: 7 Apr 2024, 3:41 a.m.
Panel Version: 0.164
The expanded (TTTTA)exp(TTTCA)exp(TTTTA)n allele was identified in a single case with myoclonic epilepsy. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat.
Sources: Literature
Created: 29 Aug 2021, 4:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial adult myoclonic, 7 MIM#618075

Publications

Created: 29 Aug 2021, 4:57 a.m.

Panel version: 0.164

Details

Name
FAME7
Chromosome
4
GRCh37 Coordinates
160263679-160263768
GRCh38 Coordinates
159342527-159342616
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 Amber
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 7 MIM#618075
Tags
adult-onset
OMIM
609530
Clinvar variants
Variants in RAPGEF2
Penetrance
None
Publications

History Filter Activity

7 Apr 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for STR: FAME7 were set to 29507423

7 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fame7 has been classified as Amber List (Moderate Evidence).

10 Sep 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: FAME7.

29 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fame7 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: FAME7 was added STR: FAME7 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME7 were set to 29507423 Phenotypes for STR: FAME7 were set to Epilepsy, familial adult myoclonic, 7 MIM#618075 Review for STR: FAME7 was set to RED