Severe early-onset obesity
Gene: PHF6The 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
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: changed MOI from XLD to XLRCreated: 25 Sep 2017, 2:12 p.m.
Comment on list classification: Expert opinion + Borjeson- Forssman-Lehmann assoc with obesity & Short statureCreated: 19 Aug 2016, 12:29 p.m.
Tag Q4_21_MOI was removed from gene: PHF6.
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)
Tag Q4_21_MOI tag was added to gene: PHF6.
Publications for gene: PHF6 were set to
Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Source Expert list was added to PHF6. Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Mode of inheritance for PHF6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
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)
Phenotypes for PHF6 were set to Obesity;Borjeson-Forssman-Lehmann syndrome
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PHF6 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory