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  3. BRPF1
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Blepharophimosis

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.
Sources: Expert Review
Created: 5 Jun 2021, 11:43 p.m.

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, 11:43 p.m.

Panel version: 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
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

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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRPF1 was added gene: BRPF1 was added to Blepharophimosis. Sources: Expert Review Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRPF1 were set to 27939640; 27939639 Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022 Review for gene: BRPF1 was set to GREEN