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Newborns main panel

Gene: FXYD2

Amber List (moderate evidence)
FXYD2 (FXYD domain containing ion transport regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000137731
EnsemblGeneIds (GRCh37): ENSG00000137731
OMIM: 601814, Gene2Phenotype
FXYD2 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
2 families, all same variant and haplotype
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hypomagnesemia 2, renal
OMIM
601814
Clinvar variants
Variants in FXYD2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypomagnesemia 2, renal for gene: FXYD2

14 Jul 2023, Gel status: 2

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: FXYD2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FXYD2. Mode of inheritance for gene FXYD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypomagnesemia 2, renal for gene: FXYD2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to FXYD2. Mode of pathogenicity for gene FXYD2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Hypomagnesemia 2, renal for gene: FXYD2 Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to FXYD2. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypomagnesemia 2, renal for gene: FXYD2

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FXYD2 was added gene: FXYD2 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown