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Mendeliome

Gene: FXYD6

Red List (low evidence)

FXYD6 (FXYD domain containing ion transport regulator 6)
EnsemblGeneIds (GRCh38): ENSG00000137726
EnsemblGeneIds (GRCh37): ENSG00000137726
OMIM: 606683, Gene2Phenotype
FXYD6 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Reported as a schizophrenia susceptibility loci in 2007. One missense variant in FXYD6-FXYD2 read through gene (classified as LB in ClinVar, ID: 734012) and one missense variant in FXYD6 (p.Gly73Arg - 561 hets in gnomAD v2.1) which is too common for AD disease, reported in an early-onset schizophrenia cohort. No functional assessment
Created: 12 May 2022, 10:43 p.m. | Last Modified: 12 May 2022, 10:43 p.m.
Panel Version: 0.14188

Phenotypes
Schizophrenia MONDO:0005090

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizophrenia MONDO:0005090
OMIM
606683
Clinvar variants
Variants in FXYD6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fxyd6 has been classified as Red List (Low Evidence).

12 May 2022, Gel status: 1

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FXYD6 were changed from to Schizophrenia MONDO:0005090

12 May 2022, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FXYD6 were set to

12 May 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fxyd6 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FXYD6 was added gene: FXYD6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FXYD6 was set to Unknown