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Fetal anomalies

Gene: ATXN2L

Amber List (moderate evidence)

ATXN2L (ataxin 2 like)
EnsemblGeneIds (GRCh38): ENSG00000168488
EnsemblGeneIds (GRCh37): ENSG00000168488
OMIM: 607931, Gene2Phenotype
ATXN2L is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

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

33283965 - Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. Macrocephaly was detected prenatally. This together with breech presentation resulted in elective C-section at 36 weeks.
Sources: Literature
Created: 28 Feb 2022, 2:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
macrocephaly; intellectual disability

Publications

Details

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

History Filter Activity

28 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ATXN2L was added gene: ATXN2L was added to Fetal anomalies. 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 macrocephaly; intellectual disability Review for gene: ATXN2L was set to AMBER