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  2. Likely inborn error of metabolism
  3. FXYD2
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Likely inborn error of metabolism

Gene: FXYD2

Red List (low 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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

3 families reported with the same variant, all sharing a haplotype. No other pathogenic variants reported in ClinVar. PMID: 17980699 - molecular mechanism for the dominant mutation. PMID: 24204001 - variants in PCBD1 reported in hypomagnesemia or MODY were reported to affect FXYD2 transcription: PCBD1 is green on this panel. PMID: 23344951 - mouse knockout model reports FXYD2 alters glucose control.
Created: 23 Feb 2017, 5:13 p.m.

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

Phenotypes
Hypomagnesemia 2, renal 154020

Publications

Created: 23 Feb 2017, 5:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hypomagnesemia 2, renal 154020
  • Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
OMIM
601814
Clinvar variants
Variants in FXYD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FXYD2. Source London North GLH was added to FXYD2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FXYD2 was added gene: FXYD2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FXYD2 were set to 27604308 Phenotypes for gene: FXYD2 were set to Hypomagnesemia 2, renal 154020; Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)