Anophthalmia_Microphthalmia_Coloboma
Gene: RBP4EnsemblGeneIds (GRCh38): ENSG00000138207
EnsemblGeneIds (GRCh37): ENSG00000138207
OMIM: 180250, Gene2Phenotype
RBP4 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA.
Sources: LiteratureCreated: 22 May 2020, 1:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microphthalmia, isolated, with coloboma 10 MIM#616428
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Microphthalmia, isolated, with coloboma 10 MIM#616428
- OMIM
- 180250
- Clinvar variants
- Variants in RBP4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rbp4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rbp4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RBP4 was added gene: RBP4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBP4 were set to 25910211; 29178648 Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428 Review for gene: RBP4 was set to GREEN