PHF6

PHD finger protein 6
OMIM: 300414, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red PHF6 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM#301900
Green PHF6 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PHF6 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PHF6 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Red PHF6 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Green PHF6 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome MIM#301900
Green PHF6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Green PHF6 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Green PHF6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Green PHF6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Borjeson-Forssman-Lehmann syndrome
Green PHF6 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	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 Expert list Phenotypes Borjeson-Forssman-Lehmann syndrome MIM#301900
Red PHF6 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM # 301900
Green PHF6 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.10	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Green PHF6 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Red PHF6 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900