Structural eye disease
Gene: BRPF1
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 IDCreated: 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
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 listCreated: 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
Gene: brpf1 has been classified as Amber List (Moderate Evidence).
Tag Q1_22_rating was removed from gene: BRPF1.
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