Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: FRA10AC1

Green List (high evidence)

FRA10AC1 (FRA10A associated CGG repeat 1)
EnsemblGeneIds (GRCh38): ENSG00000148690
EnsemblGeneIds (GRCh37): ENSG00000148690
OMIM: 608866, Gene2Phenotype
FRA10AC1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FRA10AC1-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMIDs: 34694367;35821753;35871492).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FRA10AC1-related neurodevelopmental disorder

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRA10AC1-related neurodevelopmental disorder
OMIM
608866
Clinvar variants
Variants in FRA10AC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FRA10AC1 was added gene: FRA10AC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 35871492; 35821753; 34694367 Phenotypes for gene: FRA10AC1 were set to FRA10AC1-related neurodevelopmental disorder