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  2. Clefting
  3. PHF8
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Clefting

Gene: PHF8

Green List (high evidence)
PHF8 (PHD finger protein 8)
EnsemblGeneIds (GRCh38): ENSG00000172943
EnsemblGeneIds (GRCh37): ENSG00000172943
OMIM: 300560, Gene2Phenotype
PHF8 is in 4 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Four families to date. Clefting a reported feature
Created: 26 May 2017, 7:40 a.m.

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

Phenotypes
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
  • MRXSSD
  • Cleft lip
OMIM
300560
Clinvar variants
Variants in PHF8
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PHF8. Panel: Clefting Phenotypes for gene PHF8 were set to SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME, MRXSSD, Cleft lip

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PHF8 was created by ellenmcdonagh

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PHF8 was added to Cleftingpanel. Sources: Expert Review Green