1. Panels
  2. DDG2P
  3. ATXN7L3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: ATXN7L3

Green List (high evidence)
ATXN7L3 (ataxin 7 like 3)
EnsemblGeneIds (GRCh38): ENSG00000087152
EnsemblGeneIds (GRCh37): ENSG00000087152
ATXN7L3 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ATXN7L3-related developmental delay, hypotonia and facial dysmorphism are moderate, monoallelic_autosomal and loss of function (PMID:38753057). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03701.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

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

Phenotypes
ATXN7L3-related developmental delay, hypotonia and facial dysmorphism

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATXN7L3-related developmental delay, hypotonia and facial dysmorphism
  • Harel-Tora neurodevelopmental syndrome, OMIM:621377
Tags
gene-checked
Clinvar variants
Variants in ATXN7L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: ATXN7L3 were changed from ATXN7L3-related developmental delay, hypotonia and facial dysmorphism to ATXN7L3-related developmental delay, hypotonia and facial dysmorphism; Harel-Tora neurodevelopmental syndrome, OMIM:621377

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: ATXN7L3.

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ATXN7L3 was added gene: ATXN7L3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN7L3 were set to 38753057 Phenotypes for gene: ATXN7L3 were set to ATXN7L3-related developmental delay, hypotonia and facial dysmorphism