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Severe microcephaly

Gene: ATP1A2

Amber List (moderate evidence)

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated families with multiple congenital abnormalities and different homozygous truncating variants in the ATP1A2 gene. All were affected by microcephaly, and where measurements were specified, the severity was within the scope of this panel.

Rating Amber but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)
Created: 18 Jan 2021, 11:53 a.m. | Last Modified: 18 Jan 2021, 11:53 a.m.
Panel Version: 2.70

Zornitza Stark (Australian Genomics)

Green List (high evidence)

This is a distinct phenotype from the one associated with mono-allelic variants.

PMID: 30690204;
- 2 families with severe microcephaly (-6 to -8 SD)
- both homozygous PTVs

PMID: 31608932;
- 4 patients from 2 families
- Family A, all 3 affecteds had severe microcephaly during ultrasound (-3 to -4 SD)
- Family B, no measurements were reported
- both homozygous PTVs
Sources: Expert list
Created: 31 Aug 2020, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

18 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: atp1a2 has been classified as Amber List (Moderate Evidence).

18 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ATP1A2.

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ATP1A2 was added gene: ATP1A2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204; 31608932 Phenotypes for gene: ATP1A2 were set to hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations Review for gene: ATP1A2 was set to GREEN gene: ATP1A2 was marked as current diagnostic