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  3. BRPF1
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Fetal anomalies

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

1 review

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.

IUGR reported in some.
Created: 5 Jun 2021, 11:46 p.m. | Last Modified: 9 Nov 2021, 9:59 p.m.
Panel Version: 0.342

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 5 Jun 2021, 11:46 p.m.
Last Modified: 9 Nov 2021, 9:59 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3812

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
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

9 Nov 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).

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRPF1 were set to

9 Nov 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRPF1 was added gene: BRPF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis