Malformations of cortical development
Gene: ATP1A2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
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 affected fetuses display a common cerebral phenotype with multiple cortical malformations and polymicrogyria (PMIDs: 30690204 and 31608932)
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, 11:37 a.m. | Last Modified: 18 Jan 2021, 11:39 a.m.
Panel Version: 2.25
Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities including extensive cortical malformations. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Sources: Expert listCreated: 24 Aug 2020, 11:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: ATP1A2.
Source Expert Review Green was added to ATP1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ATP1A2 were set to 31608932
Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ATP1A2.
gene: ATP1A2 was added gene: ATP1A2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 31608932 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations Review for gene: ATP1A2 was set to GREEN gene: ATP1A2 was marked as current diagnostic