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Severe microcephaly

Gene: RRP7A

Amber List (moderate evidence)

RRP7A (ribosomal RNA processing 7 homolog A)
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)

I don't know

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: Literature
Created: 9 Dec 2020, 7:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal




Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Microcephaly
Clinvar variants
Variants in RRP7A
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