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  3. PHF6
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Severe early-onset obesity

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

5 reviews

Ivone Leong (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 3:52 p.m. | Last Modified: 3 Mar 2022, 3:52 p.m.
Panel Version: 2.48
MOI should be changed from "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" as females also have disease. It should be noted that not all females with variants in this gene has obesity.
Created: 29 Nov 2021, 4:25 p.m. | Last Modified: 29 Nov 2021, 4:25 p.m.
Panel Version: 2.46

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

Publications

Created: 29 Nov 2021, 4:25 p.m.
Last Modified: 3 Mar 2022, 3:52 p.m.
Panel version: 2.48

Ismaa Farooqi (University of Cambridge)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI from XLD to XLR
Created: 25 Sep 2017, 2:12 p.m.
Created: 25 Sep 2017, 2:12 p.m.

Panel version: 1.2

Ayesha Ahmed (GEL)

Comment on list classification: Expert opinion + Borjeson- Forssman-Lehmann assoc with obesity & Short stature
Created: 19 Aug 2016, 12:29 p.m.
Created: 19 Aug 2016, 12:29 p.m.

Panel version: 0.95

stephen o'rahilly (university of cambridge)

Green List (high evidence)

Created: 27 Dec 2015, 5:22 p.m.

Panel version: 0.50

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 list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
OMIM
300414
Clinvar variants
Variants in PHF6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI was removed from gene: PHF6.

3 Mar 2022, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: PHF6.

29 Nov 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PHF6 were set to

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900

15 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to PHF6. Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6

25 Sep 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

18 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

18 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PHF6 were set to Obesity;Borjeson-Forssman-Lehmann syndrome

19 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

19 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Green List (High Evidence).

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PHF6 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory