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Mendeliome

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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.
Created: 5 Jun 2021, 11:45 p.m. | Last Modified: 5 Jun 2021, 11:45 p.m.
Panel Version: 0.7857

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32652122: one child with intellectual developmental disorder with dysmorphic facies and ptosis who had sudden unexplained death (SUDC) carrying a de novo fs variant in BRPF1.

PMID: 27939640: LOF is a proven mechanism

Pathogenic variants are usually de novo. One case of low level mosaicism in unaffected mother who had an affected child (OMIM).
Created: 8 Jan 2021, 2:23 a.m. | Last Modified: 8 Jan 2021, 2:23 a.m.
Panel Version: 0.6019

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

Phenotypes
Intellectual developmental disorder with dysmorphic facies and ptosis MIM#617333

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
  • MONDO:0015022
OMIM
602410
Clinvar variants
Variants in BRPF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brpf1 has been classified as Green List (High Evidence).

5 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRPF1 were changed from to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022

5 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRPF1 were set to

5 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BRPF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRPF1 was added gene: BRPF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRPF1 was set to Unknown