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Intellectual disability

Gene: ATXN2L

Amber List (moderate evidence)

ATXN2L (ataxin 2 like)
EnsemblGeneIds (GRCh38): ENSG00000168488
EnsemblGeneIds (GRCh37): ENSG00000168488
OMIM: 607931, Gene2Phenotype
ATXN2L is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not asssociated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given a Amber rating.
Created: 14 Jul 2021, 2:32 p.m. | Last Modified: 14 Jul 2021, 2:32 p.m.
Panel Version: 3.1193

Zornitza Stark (Australian Genomics)

I don't know

Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0 Limited other data available.
Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work.
Sources: Literature
Created: 12 Jun 2021, 2:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Macrocephaly

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Macrocephaly
Tags
watchlist
OMIM
607931
Clinvar variants
Variants in ATXN2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ATXN2L.

14 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: atxn2l has been classified as Amber List (Moderate Evidence).

12 Jun 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ATXN2L was added gene: ATXN2L was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN2L were set to 33283965; 33057194 Phenotypes for gene: ATXN2L were set to Intellectual disability; Macrocephaly Review for gene: ATXN2L was set to AMBER