Macrocephaly_Megalencephaly
Gene: ATXN2LEnsemblGeneIds (GRCh38): ENSG00000168488
EnsemblGeneIds (GRCh37): ENSG00000168488
OMIM: 607931, Gene2Phenotype
ATXN2L is in 4 panels
1 review
Sue White (Victorian Clinical Genetics Services)
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
Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work.
Sources: LiteratureCreated: 7 Jun 2021, 5:36 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
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: atxn2l has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)gene: ATXN2L was added gene: ATXN2L was added to Macrocephaly_Megalencephaly. 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 Penetrance for gene: ATXN2L were set to unknown Review for gene: ATXN2L was set to AMBER