BPTF

bromodomain PHD finger transcription factor
OMIM: 601819, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green BPTF in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Green BPTF in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
Green BPTF in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Green BPTF in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Amber BPTF in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Red BPTF in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755