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  3. PHF6
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Pigmentary skin disorders

Gene: PHF6

Green List (high evidence)
PHF6 (PHD finger protein 6)
EnsemblGeneIds (GRCh38): ENSG00000156531
EnsemblGeneIds (GRCh37): ENSG00000156531
OMIM: 300414, Gene2Phenotype
PHF6 is in 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The 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
Created: 9 Mar 2022, 2:35 p.m.
Last Modified: 9 Mar 2022, 2:35 p.m.
Panel version: 1.42

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
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

Created: 21 Oct 2021, 3:42 p.m.

Panel version: 1.16

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 Green
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
  • Fine and whorled Blaschko-linear hypo or hyperpigmentation
OMIM
300414
Clinvar variants
Variants in PHF6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: PHF6. Tag Q4_21_NHS_review was removed from gene: PHF6.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PHF6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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