Genomics England
GMS Panels
Panels
Genes and Entities

PHF8

PHD finger protein 8
OMIM: 300560
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME, MRXSSD, Cleft lip
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation syndrome, X-linked, Siderius type, 300263, MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE (MRXSSD)