BRPF1

bromodomain and PHD finger containing 1
OMIM: 602410, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green BRPF1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes BRPF1 associated syndromic intellectual disability with ptosis
Green BRPF1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRPF1 associated syndromic intellectual disability with ptosis
Green BRPF1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis 617333
Amber BRPF1 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333
Green BRPF1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333