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  2. Structural eye disease
  3. BRPF1
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Structural eye disease

Gene: BRPF1

Amber List (moderate evidence)
BRPF1 (bromodomain and PHD finger containing 1)
EnsemblGeneIds (GRCh38): ENSG00000156983
EnsemblGeneIds (GRCh37): ENSG00000156983
OMIM: 602410, Gene2Phenotype
BRPF1 is in 4 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Haug et al. 2021 reported a de novo frameshift in a patient with microphthalmia and coloboma. De Meulenare et al. 2019 reported a de novo nonsense variant in a boy with coloboma and ID
Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with dysmorphic facies and ptosis

Publications

Created: 20 Jan 2022, 11:38 a.m.
Last Modified: 20 Jan 2022, 11:38 a.m.
Panel version: 1.101

Ivone Leong (Genomics England Curator)

I don't know

Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been rated Amber.
Created: 1 Mar 2022, 3:28 p.m. | Last Modified: 1 Mar 2022, 3:28 p.m.
Panel Version: 1.106
Sources: Expert list
Created: 20 Jan 2022, 11:26 a.m.

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

Phenotypes
Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333

Publications

Created: 20 Jan 2022, 11:26 a.m.

Panel version: 1.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333
OMIM
602410
Clinvar variants
Variants in BRPF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: brpf1 has been classified as Amber List (Moderate Evidence).

1 Mar 2022, Gel status: 1

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q1_22_rating was removed from gene: BRPF1.

20 Jan 2022, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: BRPF1 was added gene: BRPF1 was added to Structural eye disease. Sources: Expert list Q1_22_rating tags were added to gene: BRPF1. Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRPF1 were set to 33418956; 31176769 Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, OMIM:617333 Review for gene: BRPF1 was set to AMBER