Genomics England
GMS Panels
Panels
Genes and Entities

BPTF

bromodomain PHD finger transcription factor
OMIM: 601819
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755, intellectual disability
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755