Severe microcephaly
Gene: RRP7A
RRP7A (ribosomal RNA processing 7 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000189306
EnsemblGeneIds (GRCh37): ENSG00000189306
RRP7A is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000189306
EnsemblGeneIds (GRCh37): ENSG00000189306
RRP7A is in 1 panel
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. PMID:33199730 report a homozygous missense variant (c.465G>C; p.Trp155Cys) in RRP7A that segregated with primary microcephaly in a consanguineous family with 10 affected individuals. Supported by animal model data. Rating Amber, awaiting further cases.Created: 19 May 2021, 1:34 p.m. | Last Modified: 19 May 2021, 1:34 p.m.
Panel Version: 2.168
Zornitza Stark (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: 9 Dec 2020, 7:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Microcephaly
- Clinvar variants
- Variants in RRP7A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 May 2021, Gel status: 2
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: rrp7a has been classified as Amber List (Moderate Evidence).
9 Dec 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: RRP7A was added gene: RRP7A was added to Severe 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