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Repeat Disorders

STR: FAME1

Green List (high evidence)
Chromosome: 8
GRCh37 Position: 119379055-119379157
GRCh38 Position: 118366816-118366918
Repeated Sequence: TTTCA
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)

Green List (high evidence)

NC_000008.10:g.119379055_119379157TGAAA[X]TAAAA[X]
A heterozygous or homozygous 5-bp expanded TTTCA(n) insertion associated with an upstream 5-bp TTTTA(n) repeat expansion in a noncoding region within intron 4 of the SAMD12 gene, was identified in over 50 Chinese and Japanese families. 4 homozygous cases from 3 families had a more severe phenotype. The TTTTA repeat was present in controls, while the TTTCA was absent and only present in cases (100-3680 repeats reported). RNA toxicity is expected to be the mechanism of disease.
Sources: Expert list
Created: 29 Aug 2021, 2:50 a.m. | Last Modified: 29 Aug 2021, 3:30 a.m.
Panel Version: 0.95

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Epilepsy, familial adult myoclonic, 1 MIM#601068

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 29 Aug 2021, 2:50 a.m.
Last Modified: 29 Aug 2021, 3:30 a.m.
Panel version: 0.94

Details

Name
FAME1
Chromosome
8
GRCh37 Coordinates
119379055-119379157
GRCh38 Coordinates
118366816-118366918
Repeated Sequence
TTTCA
Normal Number of Repeats: <
0
Pathogenic Number of Repeats: = or >
100
Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, familial adult myoclonic, 1 MIM#601068
Tags
adult-onset
Clinvar variants
Variants in SAMD12
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: FAME1.

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fame1 has been classified as Green List (High Evidence).

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fame1 has been classified as Green List (High 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 was added STR: FAME1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: FAME1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for STR: FAME1 were set to 30194086; 29507423 Phenotypes for STR: FAME1 were set to Epilepsy, familial adult myoclonic, 1 MIM#601068 Review for STR: FAME1 was set to GREEN STR: FAME1 was marked as clinically relevant