Repeat Disorders
STR: FAME1_TTTGA
Chromosome: 8
GRCh37 Position: 119379055-119379157
GRCh38 Position: 118366816-118366918
Repeated Sequence: TTTGA
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 100
SAMD12 (sterile alpha motif domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000177570
EnsemblGeneIds (GRCh37): ENSG00000177570
SAMD12 is in 0 panels
GRCh37 Position: 119379055-119379157
GRCh38 Position: 118366816-118366918
Repeated Sequence: TTTGA
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 100
SAMD12 (sterile alpha motif domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000177570
EnsemblGeneIds (GRCh37): ENSG00000177570
SAMD12 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family with 2 cases and 1 asymptomatic carrier with the repeat allele (TTTTA)114-123 (TTTGA)108-116, instead of the TTTCA FAME1 repeat.
Sources: LiteratureCreated: 29 Aug 2021, 6:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial cortical myoclonic tremor with epilepsy
Publications
Details
- Name
- FAME1_TTTGA
- Chromosome
- 8
- GRCh37 Coordinates
- 119379055-119379157
- GRCh38 Coordinates
- 118366816-118366918
- Repeated Sequence
- TTTGA
- Normal Number of Repeats: <
- 0
- Pathogenic Number of Repeats: = or >
- 100
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- familial cortical myoclonic tremor with epilepsy
- Clinvar variants
- Variants in SAMD12
- Penetrance
- None
- Publications
History Filter Activity
29 Aug 2021, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fame1_tttga 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: FAME1_TTTGA was added STR: FAME1_TTTGA was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME1_TTTGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME1_TTTGA were set to 31483537 Phenotypes for STR: FAME1_TTTGA were set to familial cortical myoclonic tremor with epilepsy Review for STR: FAME1_TTTGA was set to RED