Renal Tubulopathies and related disorders

Gene: ATP1A1

Green List (high evidence)

3 unrelated infants who are from non-consanguineous families and who presented with a disease phenotype consisting of generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Heterozygous de novo mutations in ATP1A1 (p.Leu302Arg, p.Gly303Arg, p.Met859Arg). Functional studies show the critical role of the α1 subunit of Na+, K+-ATPase for the maintenance of ionic gradients, the generation of resting membrane potential, and the termination of neuronal activity in the central nervous system
Sources: Literature

Created: 9 Jan 2020, 4:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314; Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036

Publications

• PMID: 30388404

Green List (high evidence)

Three infants with de novo missense variants in this gene; seizures persisted despite correction of magnesium, intellectual disability is part of the phenotype. Note gene is also linked to CMT and possibly HSP.
Sources: Literature

Created: 19 Dec 2019, 1:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; seizures; hypomagnesaemia

Publications

• 30388404