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  2. Clefting disorders
  3. PHF8
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Clefting disorders

Gene: PHF8

Green List (high evidence)
PHF8 (PHD finger protein 8)
EnsemblGeneIds (GRCh38): ENSG00000172943
EnsemblGeneIds (GRCh37): ENSG00000172943
OMIM: 300560, Gene2Phenotype
PHF8 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft lip and palate are a feature.
Created: 29 Jan 2021, 4:03 a.m. | Last Modified: 29 Jan 2021, 4:03 a.m.
Panel Version: 0.27

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Created: 29 Jan 2021, 4:03 a.m.
Last Modified: 29 Jan 2021, 4:03 a.m.
Panel version: 0.27

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Symptomatic carrier females never reported

LOF proven
Created: 30 Jan 2020, 10:33 p.m. | Last Modified: 30 Jan 2020, 10:33 p.m.
Panel Version: 0.5

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation syndrome, X-linked, Siderius type

Publications

Created: 30 Jan 2020, 10:33 p.m.
Last Modified: 30 Jan 2020, 10:33 p.m.
Panel version: Imported from Clefts panel version 0.5

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation syndrome, X-linked, Siderius type, 300263
OMIM
300560
Clinvar variants
Variants in PHF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf8 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHF8 were changed from MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip to Mental retardation syndrome, X-linked, Siderius type, 300263

29 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHF8 were set to

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHF8 was added gene: PHF8 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip