Intellectual disability
Gene: ATP2C2

ATP2C2 (ATPase secretory pathway Ca2+ transporting 2)
EnsemblGeneIds (GRCh38): ENSG00000064270
EnsemblGeneIds (GRCh37): ENSG00000064270
OMIM: 613082, Gene2Phenotype
ATP2C2 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment.

PMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W).
Sources: Literature
Created: 6 Jul 2021, 12:54 p.m.

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

Phenotypes
language impairment, HP:0002463

Publications

Created: 6 Jul 2021, 12:54 p.m.

Panel version: 3.1158

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

language impairment, HP:0002463

OMIM

613082

Clinvar variants

Variants in ATP2C2

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

6 Jul 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: ATP2C2 was added gene: ATP2C2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2C2 were set to 33864365; 28440294 Phenotypes for gene: ATP2C2 were set to language impairment, HP:0002463 Review for gene: ATP2C2 was set to RED

Intellectual disability Gene: ATP2C2