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Severe microcephaly

Gene: RRP7A

No list

RRP7A (ribosomal RNA processing 7 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000189306
EnsemblGeneIds (GRCh37): ENSG00000189306
RRP7A is in 1 panel

1 review

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

Phenotypes
Microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly
Clinvar variants
Variants in RRP7A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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