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DDG2P

Gene: ATN1

Green List (high evidence)
ATN1 (atrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 14 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities are strong, monoallelic_autosomal and undetermined (PMID:30827498). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02647.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease congenital hypotonia, epilepsy, developmental delay, digit abnormalities is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30827498).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0032781; ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities; congenital hypotonia, epilepsy, developmental delay, digit abnormalities; OMIM:618494.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: congenital hypotonia, epilepsy, developmental delay, digit abnormalities. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic
Created: 22 Apr 2019, 7:34 p.m.
Created: 22 Apr 2019, 7:34 p.m.

Panel version: 1.38

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ATN1 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ATN1. Mode of pathogenicity for gene ATN1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATN1 were changed from congenital hypotonia, epilepsy, developmental delay, digit abnormalities to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ATN1 was added gene: ATN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATN1 were set to 30827498 Phenotypes for gene: ATN1 were set to congenital hypotonia, epilepsy, developmental delay, digit abnormalities Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments