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Intellectual disability

Gene: ATXN7L3

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97
ATXN7L3 variants are not associated with a phenotype in OMIM or Gen2Phen. PMID: 38753057 reports five monoallelic ATXN7L3 variants in nine unrelated cases. The variants were de novo, where this could be established (8/9 cases). Common features in the cases were: global developmental delay (8/9), dysmorphic features (7/9), hypotonia (7/9), strabismus (4/6), abnormal brain MRI (6/8). ATXN7L3 protein levels were reduced and deubiquitylation was impaired, resulting in increased levels of histone H2Bub1 in the fibroblasts of an affected individual carrying the recurrent variant: NM_001382309.1: c.340C>T; p.(Arg114Ter). This finding was consistent with the increased H2Bub1 levels in Atxn7l3-null mouse embryos, who have developmental delay and embryonic lethality (PMID: 33731875).
Sources: Literature
Created: 9 Aug 2024, 12:17 p.m.

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

Phenotypes
syndromic neurodevelopmental disorder

Publications

Created: 9 Aug 2024, 12:17 p.m.

Panel version: 8.97

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • syndromic neurodevelopmental disorder
Tags
gene-checked
Clinvar variants
Variants in ATXN7L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ATXN7L3.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to ATXN7L3. Source Expert Review Green was added to ATXN7L3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Nov 2024, Gel status: 2

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_NHS_review was removed from gene: ATXN7L3. Tag Q3_24_MOI was removed from gene: ATXN7L3.

9 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: atxn7l3 has been classified as Amber List (Moderate Evidence).

9 Aug 2024, Gel status: 1

Added Tag, Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ATXN7L3. Tag Q3_24_NHS_review tag was added to gene: ATXN7L3. Tag Q3_24_MOI tag was added to gene: ATXN7L3.

9 Aug 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ATXN7L3 was added gene: ATXN7L3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN7L3 were set to 38753057; 33731875 Phenotypes for gene: ATXN7L3 were set to syndromic neurodevelopmental disorder Review for gene: ATXN7L3 was set to GREEN