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Repeat Disorders

STR: BPES

Green List (high evidence)
Chromosome: 3
GRCh37 Position: 138664863-138664904
GRCh38 Position: 138946021-138946062
Repeated Sequence: GCN
Normal Number of Repeats: < 14
Pathogenic Number of Repeats: = or > 19

FOXL2 (forkhead box L2)
EnsemblGeneIds (GRCh38): ENSG00000183770
EnsemblGeneIds (GRCh37): ENSG00000183770
OMIM: 605597, Gene2Phenotype
FOXL2 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_023067.2:c.661_702[X]
Mechanism of disease is polyAlanine tract leading to a loss of function of the protein
Normal repeat number: 14
Pathogenic repeat number: 19-24
Sources: Expert list
Created: 20 Jun 2021, 6:28 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996

Publications

Clinically Relevant

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

Created: 20 Jun 2021, 6:28 a.m.

Panel version: 0.33

Details

Name
BPES
Chromosome
3
GRCh37 Coordinates
138664863-138664904
GRCh38 Coordinates
138946021-138946062
Repeated Sequence
GCN
Normal Number of Repeats: <
14
Pathogenic Number of Repeats: = or >
19
Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996
Tags
paediatric-onset
OMIM
605597
Clinvar variants
Variants in FOXL2
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: BPES.

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Jun 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: BPES was added STR: BPES was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: BPES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for STR: BPES were set to 11468277; 33811808 Phenotypes for STR: BPES were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996 Review for STR: BPES was set to GREEN STR: BPES was marked as clinically relevant