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  2. Craniosynostosis
  3. PHEX
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Craniosynostosis

Gene: PHEX

Green List (high evidence)
PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Craniosynostosis reported in around ~40% of affected individuals.
Sources: Expert list
Created: 3 Jul 2020, 4:03 a.m.

Mode of inheritance
Other

Phenotypes
Hypophosphatemic rickets, X-linked dominant, MIM# 307800

Publications

Created: 3 Jul 2020, 4:03 a.m.

Panel version: 0.109

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant, MIM# 307800
OMIM
300550
Clinvar variants
Variants in PHEX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phex has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phex has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHEX was added gene: PHEX was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: PHEX was set to Other Publications for gene: PHEX were set to 19242361; 17551721 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM# 307800 Review for gene: PHEX was set to GREEN