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Severe Paediatric Disorders

Gene: ATN1

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ATN1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 (3) | Dentatorubral-pallidoluysian atrophy, 125370 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
OMIM
607462
Clinvar variants
Variants in ATN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATN1 were changed from Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494; Dentatorubral-pallidoluysian atrophy, OMIM:125370

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ATN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ATN1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 for gene: ATN1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ATN1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ATN1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ATN1 was added gene: ATN1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ATN1 was set to