Pigmentary skin disorders
Gene: PHF6The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42
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
Sources: Expert listCreated: 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
Tag Q4_21_rating was removed from gene: PHF6. Tag Q4_21_NHS_review was removed from gene: PHF6.
Source Expert Review Green was added to PHF6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: PHF6 were set to 24092917
Tag Q4_21_rating tag was added to gene: PHF6. Tag Q4_21_NHS_review tag was added to gene: PHF6.
Gene: phf6 has been classified as Amber List (Moderate Evidence).
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
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