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Severe early-onset obesity v2.48 PHF6 Ivone Leong Tag Q4_21_MOI was removed from gene: PHF6.
Severe early-onset obesity v2.48 PHF6 Ivone Leong changed review comment from: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.48 PHF6 Ivone Leong commented on gene: PHF6: The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.
Severe early-onset obesity v2.47 PHF6 Ivone Leong 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)
Severe early-onset obesity v2.46 PHF6 Ivone Leong Tag Q4_21_MOI tag was added to gene: PHF6.
Severe early-onset obesity v2.46 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe early-onset obesity v2.46 PHF6 Ivone Leong Publications for gene: PHF6 were set to
Severe early-onset obesity v2.27 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v1.22 PHF6 Ismaa Farooqi reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.21 PHF6 Ivone Leong Source Expert list was added to PHF6.
Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe early-onset obesity PHF6 Louise Daugherty commented on PHF6
Severe early-onset obesity PHF6 Ayesha Ahmed marked PHF6 as ready
Severe early-onset obesity PHF6 Ayesha Ahmed classified PHF6 as green
Severe early-onset obesity PHF6 Ayesha Ahmed commented on PHF6