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Repeat Disorders

STR: SBMA

Green List (high evidence)
Chromosome: X
GRCh37 Position: 66765160-66765225
GRCh38 Position: 67545318-67545383
Repeated Sequence: CAG
Normal Number of Repeats: < 34
Pathogenic Number of Repeats: = or > 38

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_000044.4:c.172_174CAG[X]
Toxic gain of function mechanism of disease
Normal: ≤34 repeats
Unknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members
Reduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.
Full-penetrance: ≥38 repeats
Sources: Expert list
Created: 19 Jun 2021, 11:48 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal and bulbar muscular atrophy of Kennedy MIM#313200

Publications

Clinically Relevant

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

Created: 19 Jun 2021, 11:48 p.m.

Panel version: 0.1

Details

Name
SBMA
Chromosome
X
GRCh37 Coordinates
66765160-66765225
GRCh38 Coordinates
67545318-67545383
Repeated Sequence
CAG
Normal Number of Repeats: <
34
Pathogenic Number of Repeats: = or >
38
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Tags
adult-onset
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
None
Publications

History Filter Activity

8 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

19 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: SBMA was added STR: SBMA was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: SBMA were set to 2062380; 20301508; 29325606 Phenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Review for STR: SBMA was set to GREEN STR: SBMA was marked as clinically relevant