Repeat Disorders
STR: SCA27BGRCh37 Position: 102813926-102814076
GRCh38 Position: 102161576-102161726
Repeated Sequence: GAA
Normal Number of Repeats: < 249
Pathogenic Number of Repeats: = or > 300
FGF14 (fibroblast growth factor 14)
EnsemblGeneIds (GRCh38): ENSG00000102466
EnsemblGeneIds (GRCh37): ENSG00000102466
OMIM: 601515, Gene2Phenotype
FGF14 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_175929.3(FGF14):c.208+239747CTT[X]
Expansions of 250 or more GAA repeat units were associated with late-onset cerebellar ataxia in a French-Canadian (OR: 105.60 [95% CI=31.09-334.20], p<0.001) and a German (OR: 8.76 [95% CI=3.45-20.84], p<0.001) case-control series. Additionally, expanded alleles greater than (GAA)332 are pathogenic and fully penetrant in a combined Australian and German dataset (p = 6.0 × 10−8, OR = 72 [95% CI = 4.3–1,227]). Whereas, alleles in the range of (GAA)250-334 are likely to be pathogenic with reduced penetrance (p = 0.0015, OR = 3.6 [95% CI = 1.6–7.9]).
250-300 repeats in the incompletely penetrant range
>300 is fully penetrant for ataxia
Sources: LiteratureCreated: 22 May 2023, 6:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs)
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- SCA27B
- Chromosome
- 13
- GRCh37 Coordinates
- 102813926-102814076
- GRCh38 Coordinates
- 102161576-102161726
- Repeated Sequence
- GAA
- Normal Number of Repeats: <
- 249
- Pathogenic Number of Repeats: = or >
- 300
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spinocerebellar ataxia type 27B MONDO:0012247
- Spinocerebellar ataxia 50
- late-onset cerebellar ataxias (LOCAs)
- OMIM
- 601515
- Clinvar variants
- Variants in FGF14
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca27b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: sca27b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: SCA27B was added STR: SCA27B was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: SCA27B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA27B were set to 37165652; 36516086; 36493768 Phenotypes for STR: SCA27B were set to Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs) Review for STR: SCA27B was set to GREEN STR: SCA27B was marked as clinically relevant