Pigmentary skin disorders

Gene: PHF6

Amber List (moderate evidence)

PHF6 (PHD finger protein 6)
EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 29 Nov 2021, 4:21 p.m. | Last Modified: 29 Nov 2021, 4:21 p.m.
Panel Version: 1.28

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Sources: Expert list
Created: 21 Oct 2021, 3:42 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
  • Fine and whorled Blaschko-linear hypo or hyperpigmentation
Tags
Q4_21_rating Q4_21_NHS_review
OMIM
300414
Clinvar variants
Variants in PHF6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PHF6 were set to 24092917

29 Nov 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: PHF6. Tag Q4_21_NHS_review tag was added to gene: PHF6.

29 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: phf6 has been classified as Amber List (Moderate Evidence).

29 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PHF6 were changed from BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation to Borjeson-Forssman-Lehmann syndrome, OMIM:301900; Fine and whorled Blaschko-linear hypo or hyperpigmentation

21 Oct 2021, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

gene: PHF6 was added gene: PHF6 was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHF6 were set to 24092917 Phenotypes for gene: PHF6 were set to BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation Penetrance for gene: PHF6 were set to unknown Review for gene: PHF6 was set to GREEN