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Prepair 1000+

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

PHF8, HGNC:20672. From OMIM; Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate. Onset in childhood.
More than 10 unrelated families reported.
Created: 5 Feb 2025, 5:46 a.m. | Last Modified: 5 Feb 2025, 5:46 a.m.
Panel Version: 1.1456

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

Phenotypes
Mental retardation syndrome, X-linked, Siderius type, MIM#300263

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263
OMIM
300560
Clinvar variants
Variants in PHF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHF8 were changed from Mental retardation syndrome, X-linked, Siderius type, 300263 (3) to Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHF8 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 (3) for gene: PHF8

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 Mental retardation syndrome, X-linked, Siderius type, 300263 (3)