Microcephaly
Gene: RRP7AEnsemblGeneIds (GRCh38): ENSG00000189306
EnsemblGeneIds (GRCh37): ENSG00000189306
RRP7A is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish.
Sources: LiteratureCreated: 7 Dec 2020, 4:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 28, primary, autosomal recessive MIM#619453
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Microcephaly 28, primary, autosomal recessive MIM#619453
- Clinvar variants
- Variants in RRP7A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RRP7A were changed from Microcephaly to Microcephaly 28, primary, autosomal recessive MIM#619453
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RRP7A was added gene: RRP7A was added to Microcephaly. Sources: Literature Mode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRP7A were set to 33199730 Phenotypes for gene: RRP7A were set to Microcephaly Review for gene: RRP7A was set to AMBER