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Intellectual disability

Gene: BRPF1

Green List (high evidence)

BRPF1 (bromodomain and PHD finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000156983
EnsemblGeneIds (GRCh37): ENSG00000156983
OMIM: 602410, Gene2Phenotype
BRPF1 is in 3 panels

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 4:15 p.m.
10 patients from 9 famillies in PMID listed; majority truncating variants
Created: 31 Oct 2017, noon

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual developmental disorder with dysmorphic facies and ptosis 617333

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 5:12 p.m.

Mode of inheritance
Unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 11:37 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis 617333
OMIM
602410
Clinvar variants
Variants in BRPF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to BRPF1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to BRPF1. Panel: Intellectual disability Model of inheritance for gene BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene BRPF1 was set to ['27939640']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

BRPF1 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

BRPF1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene