Genomics England
GMS Panels
Panels
Genes and Entities

BPTF

bromodomain PHD finger transcription factor
OMIM: 601819
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755