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Repeat Disorders

STR: FRA7A

Amber List (moderate evidence)
Chromosome: 7
GRCh37 Position: 55955295-55955330
GRCh38 Position: 55887602-55887637
Repeated Sequence: CGG
Normal Number of Repeats: < 22
Pathogenic Number of Repeats: = or > 450

ZNF713 (zinc finger protein 713)
EnsemblGeneIds (GRCh38): ENSG00000178665
EnsemblGeneIds (GRCh37): ENSG00000178665
OMIM: 616181, Gene2Phenotype
ZNF713 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Bioinformatic analysis of 544 whole genomes from non-affected individuals demonstrated a range of 5-53 repeats, with a median of 13.
Created: 29 Sep 2021, 8:11 a.m. | Last Modified: 29 Sep 2021, 8:11 a.m.
Panel Version: 0.148
A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. The expanded allele showed hypermethylation of the adjacent CpG island and reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line. The probands mother had a pre-mutation with 85 repeats. Controls showed a CGG-repeat range of 5 to 22. In a second family a pre-mutation (66-72) was identified in 3 siblings with ASD and an unaffected father. One of the siblings had mitotic instability.
Sources: Literature
Created: 7 Sep 2021, 2:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism spectrum disorder

Publications

Created: 7 Sep 2021, 2:45 a.m.

Panel version: 0.148

Details

Name
FRA7A
Chromosome
7
GRCh37 Coordinates
55955295-55955330
GRCh38 Coordinates
55887602-55887637
Repeated Sequence
CGG
Normal Number of Repeats: <
22
Pathogenic Number of Repeats: = or >
450
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autism spectrum disorder
Tags
paediatric-onset
OMIM
616181
Clinvar variants
Variants in ZNF713
Penetrance
None
Publications

History Filter Activity

23 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fra7a has been classified as Amber List (Moderate Evidence).

10 Sep 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: FRA7A.

7 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fra7a has been classified as Red List (Low Evidence).

7 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: FRA7A was added STR: FRA7A was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRA7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FRA7A were set to 25196122 Phenotypes for STR: FRA7A were set to Autism spectrum disorder Review for STR: FRA7A was set to AMBER